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The ClinVar RCV page

ClinVar has two types of detailed displays: the VCV (variant) page and the RCV page. This document describes the RCV page.

The ClinVar RCV page the result of aggregating submitted data for the same variant-condition pair. Read more about RCV accession numbers.

Summary

The summary section includes the title for the RCV record, which includes the variant and condition for the record, followed by the aggregate clinical significance (or classification) and aggregate review status calculated for the RCV record. Read more about how ClinVar calculates aggregate classifications and the ClinVar review status. This section also shows how many submissions the RCV record is based on, the status of the RCV record, and the RCV accession number.

Allele Description

This section summarizes information about the variant, or set of variants, for the classification. The link for "Variation report" next to the header of "Allele description" goes to the VCV page.

The data in this section may come from submitters, but may also be added by NCBI, especially when the variant can be mapped to the genome. Data usually provided by NCBI include:

  • the gene
  • the variant type
  • cytogenetic and genomic locations
  • the preferred name for the variant
  • HGVS expressions:
    • on the current and previous chromosome sequence (NC accession)
    • on current NM/NPs and RefSeqGene (NG)
    • these may also be provided by submitters
  • the protein change, if applicable. e.g. V600E
  • links to related databases, such as dbSNP, dbVar, and Variation Viewer
  • GMAF, the global minor allele frequency calculated by the 1000 Genomes Project.
  • molecular consequence: a calculation of the effect of the sequence change, reported per transcript.¬†ClinVar calculates the predicted molecular consequence, but does not predict functional consequence. Functional consequence (e.g. quantitative effects on gene expression, alternative splicing, functional impact on the protein) is based on experimental evidence and must be submitted.

Condition(s)

The name of the condition(s) for which the variant was classified, with links to databases with defining information about that condition.

Clinical Assertions tab

A summary for each submitted record, including the SCV accession number, the submitter, the review status for the submitted record, clinical significance (classification), allele origin, the method used to determine the classification (e.g. clinical testing or research), and citations as provided from the submitter.

Evidence tab

A tabular summary of the evidence supporting the classifications provided by each submitter, with options to display more details about each submission. The top table (Summary from all submissions)  provides a synopsis from all submissions. The Details of each submission section provides additional data from each submitter, often including free text summarizing the variant classification.

Last updated: 2024-01-27T17:43:49Z