ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.167A>C (p.Asn56Thr) (rs80358454)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162996 SCV000213484 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031332 SCV000146286 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162996 SCV000903287 likely benign Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031332 SCV000244424 benign Breast-ovarian cancer, familial 2 2015-08-10 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 = 0.00000306
GeneDx RCV000212201 SCV000210658 likely benign not specified 2017-11-15 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.
Invitae RCV000043861 SCV000071874 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212201 SCV000600482 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031332 SCV000053937 likely benign Breast-ovarian cancer, familial 2 2011-02-09 no assertion criteria provided clinical testing

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