The Evolution of Variant Classification

Author’s note: this article is powered by SolveBio. All analyses were based on SolveBio API queries. Please see our documentation for a tutorial on how to perform this exact analysis.

Since launching at the end 2012, ClinVar has quickly become the largest public repository of sequence variant and phenotype assertions, with 159,914 records as of April 2015. A key component of a ClinVar record is the “clinical significance” field, or how a sequenced genetic variant is relevant to an associated phenotype. The given clinical significance classification of a variant can change over time as additional clinical and experimental evidence is added to a ClinVar assertion (RCV) record.

Since high throughput sequencing has dramatically increased the number of sequenced genetic variants, how has the variant classification landscape in ClinVar itself changed over time?