ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3453C>G (p.Ile1151Met) (rs80358592)

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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 RCV000132398 SCV000187490 likely benign Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification,Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031423 SCV000146237 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000132398 SCV000688807 likely benign Hereditary cancer-predisposing syndrome 2017-08-22 criteria provided, single submitter clinical testing
Counsyl RCV000031423 SCV000487790 uncertain significance Breast-ovarian cancer, familial 2 2015-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000212229 SCV000210591 likely benign not specified 2017-03-27 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 RCV000588820 SCV000694694 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing
Invitae RCV000044199 SCV000072212 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031423 SCV000054028 likely benign Breast-ovarian cancer, familial 2 2013-06-04 no assertion criteria provided clinical testing

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