ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.217C>T (p.Gln73Ter) (rs398122741)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077678 SCV000300308 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077678 SCV000296625 pathogenic Breast-ovarian cancer, familial 2 2015-08-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077678 SCV000109481 pathogenic Breast-ovarian cancer, familial 2 2011-10-18 no assertion criteria provided clinical testing

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