ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys) (rs80357049)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859050 SCV000076079 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165900 SCV000216655 likely benign Hereditary cancer-predisposing syndrome 2017-12-01 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
GeneDx RCV000442663 SCV000526567 likely benign not specified 2016-10-31 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.
Color RCV000165900 SCV000688420 likely benign Hereditary cancer-predisposing syndrome 2017-10-24 criteria provided, single submitter clinical testing
Mendelics RCV000048066 SCV000839260 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000031087 SCV001140561 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031087 SCV000053683 likely benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031087 SCV000144629 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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