ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr) (rs80357488)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047396 SCV000075409 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000212163 SCV000209922 likely benign not specified 2015-05-30 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.
Ambry Genetics RCV000222994 SCV000276775 likely benign Hereditary cancer-predisposing syndrome 2019-03-13 criteria provided, single submitter clinical testing Other data supporting benign classification
Color Health, Inc RCV000222994 SCV000688324 likely benign Hereditary cancer-predisposing syndrome 2017-07-21 criteria provided, single submitter clinical testing
Mendelics RCV000047396 SCV000839290 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284387 SCV001470158 uncertain significance not provided 2020-07-11 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111575 SCV000144042 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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