ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) (rs28897723)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044305 SCV000072318 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130607 SCV000185483 likely benign Hereditary cancer-predisposing syndrome 2018-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,in silico models in agreement (benign)
GeneDx RCV000417556 SCV000515650 likely benign not specified 2017-12-08 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000417556 SCV000591881 uncertain significance not specified 2014-07-04 criteria provided, single submitter clinical testing
Counsyl RCV000031446 SCV000786159 uncertain significance Breast-ovarian cancer, familial 2 2018-03-12 criteria provided, single submitter clinical testing
Mendelics RCV000044305 SCV000838793 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000130607 SCV000910964 benign Hereditary cancer-predisposing syndrome 2016-02-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031446 SCV000054051 benign Breast-ovarian cancer, familial 2 2009-02-02 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031446 SCV000146330 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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