The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.

ABSTRACT: With the increasing use of clinical genomic testing across broad medical disciplines, the need for data sharing and curation efforts to improve variant interpretation is paramount. The National Center for Biotechnology Information (NCBI) ClinVar database facilitates these efforts by serving as a repository for clinical assertions about genomic variants and associations with disease. Most variant submissions are from clinical laboratories, which may lack clinical details. Laboratories may also choose not to submit all variants. Clinical providers can contribute to variant interpretation improvements by submitting variants to ClinVar with their own assertions and supporting evidence. The medical genetics team at Geisinger's Autism & Developmental Medicine Institute routinely reviews the clin

SUBMITTER: Wain KE 

PROVIDER: S-EPMC6190575 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature