ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) (rs80358731)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130358 SCV000185209 likely benign Hereditary cancer-predisposing syndrome 2018-03-07 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) RCV000031527 SCV000146533 uncertain significance Breast-ovarian cancer, familial 2 2001-02-16 no assertion criteria provided clinical testing
Color RCV000130358 SCV000902797 likely benign Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000031527 SCV000786230 likely benign Breast-ovarian cancer, familial 2 2018-03-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000430752 SCV000591939 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000430752 SCV000526371 likely benign not specified 2017-08-18 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 RCV000590213 SCV000694827 benign not provided 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV000044552 SCV000072565 benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031527 SCV000054132 likely benign Breast-ovarian cancer, familial 2 2012-03-05 no assertion criteria provided clinical testing

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