clinvar-preview-json

small variants:

{
  "clinvar-preview": [
    {
      "altAllele": "A",
      "refAllele": "G",
      "variantType": "SNV",
      "accession": "VCV000437934",
      "version": "1",
      "recordType": "classified",
      "dateLastUpdated": "2023-08-06",
      "rcvs": [
        {
          "accession": "RCV000505090",
          "version": "1",
          "classifications": {
            "germlineClassification": {
              "reviewStatus": "no assertion criteria provided",
              "descriptions": [
                {
                  "dateLastEvaluated": "2016-08-31",
                  "classification": "Pathogenic"
                }
              ]
            }
          },
          "classifiedConditions": [
            {
              "condition": "Cleidocranial dysostosis",
              "db": "MedGen",
              "id": "C0008928"
            }
          ]
        }
      ],
      "classifications": {
        "germlineClassification": {
          "reviewStatus": "no assertion criteria provided",
          "classification": "Pathogenic",
          "dateLastEvaluated": "2016-08-31",
          "mostRecentSubmission": "2017-09-09",
          "conditions": [
            {
              "type": "Disease",
              "contributesToAggregateClassification": true,
              "traits": [
                {
                  "id": "820",
                  "name": {
                    "xRefs": [
                      {
                        "db": "Genetic Alliance",
                        "id": "Cleidocranial+Dysplasia/1683"
                      },
                      {
                        "db": "SNOMED CT",
                        "id": "65976001"
                      }
                    ],
                    "value": "Cleidocranial dysostosis"
                  }
                }
              ]
            }
          ]
        }
      },
      "clinicalAssertions": [
        {
          "accession": "SCV000598565"
        }
      ]
    }
  ]
}

large variants:

{
  "clinvar-preview": [
    {
      "chromosome": "17",
      "begin": 150732,
      "end": 14764202,
      "variantType": "copy_number_gain",
      "accession": "VCV000154089",
      "version": "2",
      "recordType": "classified",
      "dateLastUpdated": "2023-10-15",
      "rcvs": [
        {
          "accession": "RCV000142236",
          "version": "6",
          "classifications": {
            "germlineClassification": {
              "reviewStatus": "no assertion criteria provided",
              "descriptions": [
                {
                  "dateLastEvaluated": "2014-03-10",
                  "classification": "Pathogenic"
                }
              ]
            }
          },
          "classifiedConditions": [
            {
              "condition": "See cases"
            }
          ]
        }
      ],
      "classifications": {
        "germlineClassification": {
          "reviewStatus": "no assertion criteria provided",
          "classification": "Pathogenic",
          "dateLastEvaluated": "2014-03-10",
          "mostRecentSubmission": "2015-07-13",
          "conditions": [
            {
              "type": "PhenotypeInstruction",
              "contributesToAggregateClassification": true,
              "traits": [
                {
                  "id": "18728",
                  "name": {
                    "value": "See cases"
                  }
                }
              ]
            }
          ]
        }
      },
      "clinicalAssertions": [
        {
          "accession": "SCV000183512"
        }
      ]
    }
  ]
}

Field	Type	Notes
chromosome	string	Chromosome
begin	integer	start position of variant
end	integer	end of position of variant
refAllele	string
altAllele	string
accession	string	ClinVar ID
version	string	ClinVar version
variantType	string	variant type
recordType	string	record type
dateLastUpdated	string	yyyy-MM-dd
rcvs	array	RCV objects associated to this VCV
classifications	array	classifications for this VCV
clinicalAssertions	array	SCV objects associated to this VCV
isAlleleSpecific	bool	true when the current variant alternate allele matches the ClinVar alternate allele

Variant Types

• copy_number_gain
• copy_number_loss
• deletion
• delins
• duplication
• insertion
• inversion
• SNV
• tandem_duplication

Review Statuses

• criteria provided, conflicting classifications
• criteria provided, multiple submitters, no conflicts
• criteria provided, single submitter
• no assertion criteria provided
• no classification provided
• practice guideline
• reviewed by expert panel

classification

• Benign
• Likely benign
• Pathogenic
• Uncertain significance
• Likely pathogenic
• Benign/Likely benign
• not provided
• conflicting data from submitters
• Pathogenic/Likely pathogenic
• association
• Conflicting classifications of pathogenicity
• Pathogenic; risk factor
• risk factor
• other
• drug response
• Uncertain significance; Pathogenic/Likely pathogenic
• Likely pathogenic, low penetrance
• Pathogenic; Affects
• Pathogenic, low penetrance
• protective
• Affects
• Benign; other
• Conflicting classifications of pathogenicity; other
• Conflicting classifications of pathogenicity; association
• Uncertain risk allele
• Uncertain significance; risk factor
• Likely pathogenic; risk factor
• Likely benign; association
• Likely risk allele
• Pathogenic/Likely pathogenic; other
• Pathogenic; other
• Pathogenic/Likely pathogenic/Pathogenic, low penetrance
• Pathogenic/Likely pathogenic; risk factor
• Benign/Likely benign; risk factor
• Uncertain significance/Uncertain risk allele
• Pathogenic; association; protective
• protective; risk factor
• Benign/Likely benign; other; risk factor
• Benign/Likely benign; association
• Benign; association
• Affects; association; other
• Pathogenic; protective
• Conflicting classifications of pathogenicity; drug response; other
• Conflicting classifications of pathogenicity; drug response
• Benign; drug response
• Likely pathogenic; other
• Conflicting classifications of pathogenicity; protective
• Pathogenic/Likely pathogenic; drug response
• Benign/Likely benign; other
• Likely pathogenic/Likely risk allele
• Uncertain risk allele; protective
• association not found
• Affects; association
• Uncertain significance; association
• Likely benign; other
• Uncertain significance; other
• Conflicting classifications of pathogenicity; association; risk factor Pathogenic;
• association
• Benign; risk factor
• Conflicting classifications of pathogenicity; other; risk factor
• Pathogenic/Likely risk allele; risk factor
• Uncertain significance; drug response
• Conflicting classifications of pathogenicity; risk factor
• other; risk factor
• Pathogenic/Likely pathogenic/Likely risk allele
• Likely pathogenic; drug response
• Conflicting classifications of pathogenicity; Affects
• association; drug response; risk factor
• Pathogenic; drug response
• Affects; risk factor
• Pathogenic; drug response; other
• Likely pathogenic; protective
• confers sensitivity
• Likely pathogenic; association
• Benign; Affects
• Likely pathogenic; Affects
• Uncertain risk allele; risk factor
• drug response; risk factor
• Pathogenic/Likely risk allele
• Likely benign; drug response; other
• Benign/Likely benign; drug response
• Benign/Likely benign; drug response; other
• drug response; other
• association; drug response
• Pathogenic; confers sensitivity
• association; risk factor
• Pathogenic/Pathogenic, low penetrance; other
• Benign; confers sensitivity
• confers sensitivity; other
• Likely pathogenic/Pathogenic, low penetrance
• Likely benign; risk factor