Comparison of the Record Report and the Variation Report

ClinVar supports two major displays:

  • The Record Report, based on the RCV accession generated by aggregating interpretations of  the same variation and condition from one or more submitters.
  • The Variation report, based only on variation, and aggregating data from multiple submitters independent of condition.

The RCV-based record report continues to serve as the archival record in ClinVar.  The Variation report is a view of the data to facilitate review of what has been reported about a variant.

This page summarizes the differences between the two displays.  For detailed information about each, please refer to the documentation specific to the record report and the variation report .

Allele

The elements of the allele section of the Record and Variation reports are the same.  The major difference in the Variation Report is visible only when the variation is complex. In that situation, details about the variant at each location are provided independently. If there has not been a submission to ClinVar about the single allele, independent of the complex allele,  there will not be any report in the Clinical Significance sections at the right about that single allele.

Clinical Significance

Representation in clinical significance sections

Concept Record (RCV) report Variation report
Scope/multiplicity not applicable When a compound heterozygote or haplotype is being described, and there are also submissions about any single variant in that set, the clinical significance of each is also reported in section labeledAssertions for related alleles.
Pathogenicity Strict comparison of ACMG's 5 levels; any difference is reported as a conflict Relaxed comparison; no conflict reported between Pathogenic and Likely pathogenc, nor between Benign and Likely benign
Condition(s) not explicitly reported in this section; provided in the title and condition sections List of conditions about which assertions were made
Link to record report not applicable Follow link named 'See supporting ClinVar Record'

Condition(s)

In the record report, the conditions are reported under the allele section at the left above the tabs. In the Variation Report, to make it easier to browse all the conditions about which assertions have been made for a variation, unique condition names are reported in the Clinical significance section in the upper right. Note below that the information provided by each submitter is listed in the Clinical Assertions tab.

Gene

In the record report, information about the gene is listed at the top of the allele section. In the Variation report, gene-specific information is presented in a defined section, at the right, with new links to Gene-specific pages curated by the ClinGen group, and links to gene-specific data in ClinVar and Variation Viewer .

Sequence context

In both reports, links are provided to review annotation in the immediate neighborhood of the variant  on the current assembly (GRCh38/hg20), or the previous assembly (GRCh37/hg19). In the record report, the links are provided in the allele section; in the variation report the links are provided in a boxed section in the right column. In the variation report, a link to view the RefSeqGene/LRG is also provided.

Conditions and phenotypes

Because the record display is specific to one disorder or unique set of phenotypes, the condition set specific to the record is described in one section, just above the tabs.  Because the variation report may represent more than one disorder or phenotype, the conditions are described in multiple sections. They are summarized in the overview of clinical signficiance in the upper right, and then in the Clinical Assertions and Evidence tables to clarify what each submitter provided.

Evidence

In both reports, the Evidence section provides summary data and then an overview of data from each submitter. The variation report includes subsections to facilitate making a distinction between information submitted from direct testing or research, and information extracted from the literature.

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Last updated: 2018-05-31T13:29:33Z