ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1865C>T (p.Ala622Val) (rs80358477)

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Total submissions: 8
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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) RCV000031348 SCV001161609 benign Breast-ovarian cancer, familial 2 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000433
Invitae RCV000043913 SCV000071926 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129337 SCV000184100 likely benign Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000430639 SCV000518110 likely benign not specified 2017-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000430639 SCV000600491 uncertain significance not specified 2017-03-03 criteria provided, single submitter clinical testing
Color RCV000129337 SCV000911435 likely benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031348 SCV000053953 likely benign Breast-ovarian cancer, familial 2 2009-06-19 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031348 SCV000145969 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing

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