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Updated: Jun 6, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
ClinVar: updates to support classifications of both germline and somatic variants
Melissa J Landrum1, Shanmuga Chitipiralla1, Kuljeet Kaur1
1National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA.
Abstract:
ClinVar (www.ncbi.nlm.nih.gov/clinvar/) is a free, public database of human genetic variants and their relationships to disease, with >3 million variants submitted by >2800 organizations across the world. The database was recently updated to have three types of classifications: germline, oncogenicity and clinical impact for somatic variants. As for germline variants, classifications for somatic variants can be submitted in batches in a file submission or through the submission API; variants can also be submitted and updated one at a time in online submission forms. The ClinVar XML files were redesigned to allow multiple classification types. Both old and new formats of the XML are supported through the end of 2024. Data for somatic classifications were also added to the ClinVar VCF files and to several tab-delimited files. The ClinVar VCV pages were updated to display the three types of classifications, both as it was submitted and as it was aggregated by ClinVar. Clinical testing laboratories and others in the cancer community are invited to share their classifications of somatic variant classifications through ClinVar to provide transparency in genomic testing and improve patient care.
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