ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) (rs80359177)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130150 SCV000184984 likely benign Hereditary cancer-predisposing syndrome 2017-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077462 SCV000147562 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000130150 SCV000911250 benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Counsyl RCV000077462 SCV000786192 uncertain significance Breast-ovarian cancer, familial 2 2018-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000440778 SCV000517839 likely benign not specified 2017-06-07 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.
Integrated Genetics/Laboratory Corporation of America RCV000590167 SCV000695216 uncertain significance not provided 2016-09-27 criteria provided, single submitter clinical testing
Invitae RCV000045742 SCV000073755 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000590167 SCV000778723 uncertain significance not provided 2015-10-07 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077462 SCV000109260 benign Breast-ovarian cancer, familial 2 2012-03-20 no assertion criteria provided clinical testing
True Health Diagnostics RCV000130150 SCV000886677 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 no assertion criteria provided clinical testing

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