ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) (rs80358694)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413529 SCV000492494 uncertain significance Neoplasm of the breast criteria provided, single submitter research
Ambry Genetics RCV000129285 SCV000184046 likely benign Hereditary cancer-predisposing syndrome 2016-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077330 SCV000146456 uncertain significance Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing
Color RCV000129285 SCV000903090 benign Hereditary cancer-predisposing syndrome 2016-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000077330 SCV000488129 uncertain significance Breast-ovarian cancer, familial 2 2016-01-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212237 SCV000591913 likely benign not specified 2015-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000212237 SCV000210608 likely benign not specified 2018-02-08 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 RCV000044452 SCV000072465 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212237 SCV000600596 uncertain significance not specified 2017-03-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077330 SCV000109127 likely benign Breast-ovarian cancer, familial 2 2012-04-20 no assertion criteria provided clinical testing

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