ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) (rs80357324)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164158 SCV000214774 likely benign Hereditary cancer-predisposing syndrome 2017-06-12 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification
Counsyl RCV000077613 SCV000488253 uncertain significance Breast-ovarian cancer, familial 1 2016-02-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164158 SCV000908985 likely benign Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV001498333 SCV001703083 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-24 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077613 SCV000109416 likely benign Breast-ovarian cancer, familial 1 2012-08-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077613 SCV000145449 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000077613 SCV001238515 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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