CLINVAR REPORT

This document serves as a demonstration report and is not based on your sample.

Important Notice: This report is provided on an "as-is" basis and is derived from the most up-to-date data available in the CLINVAR database as of June 11, 2023. It is crucial to note that this report does not serve as a medical diagnosis. Its sole purpose is to provide informational content. Please refrain from making any health-related decisions, either for yourself or your family, solely based on the information provided in this report. If you have any concerns or inquiries regarding the implications of these findings for you and your family, it is imperative that you seek guidance from your medical practitioner or a qualified healthcare professional.
Generated on:
2023-06-16 11:34

Legend

  • DBVARID: nsv accessions from dbVar for the variant
  • ALLELEID: the ClinVar Allele ID
  • CLNSIG: Clinical significance for this single variant; multiple values are separated by a vertical bar
  • CLNVCSO: Sequence Ontology id for variant type
  • CLNREVSTAT: ClinVar review status for the Variation ID
  • RS: dbSNP ID (i.e. rs number)
  • CLNDNINCL: For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB
  • ORIGIN: Allele origin. One or more of the following values may be added: 0 - unknown; 1 - germline; 2 - somatic; 4 - inherited; 8 - paternal; 16 - maternal; 32 - de-novo; 64 - biparental; 128 - uniparental; 256 - not-tested; 512 - tested-inconclusive; 1073741824 - other
  • MC: comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence
  • CLNDN: ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB
  • CLNVC: Variant type
  • CLNVI: the variant's clinical sources reported as tag-value pairs of database and variant identifier
  • AF_EXAC: allele frequencies from ExAC
  • AF_ESP: allele frequencies from GO-ESP
  • CLNSIGINCL: Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance; multiple values are separated by a vertical bar
  • CLNDISDB: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN
  • GENEINFO: Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)
  • CLNDISDBINCL: For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN
  • AF_TGP: allele frequencies from TGP
  • CLNSIGCONF: Conflicting clinical significance for this single variant; multiple values are separated by a vertical bar
  • CLNHGVS: Top-level (primary assembly, alt, or patch) HGVS expression.