ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) (rs78951648)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417371 SCV000209969 likely benign not specified 2017-10-16 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.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240719 SCV000265887 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000218513 SCV000273648 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000417371 SCV000605867 uncertain significance not specified 2016-10-28 criteria provided, single submitter clinical testing
Counsyl RCV000077563 SCV000785858 uncertain significance Breast-ovarian cancer, familial 1 2017-12-29 criteria provided, single submitter clinical testing
Color RCV000218513 SCV000909276 likely benign Hereditary cancer-predisposing syndrome 2017-11-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077563 SCV000109365 likely benign Breast-ovarian cancer, familial 1 2012-10-04 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077563 SCV000145002 uncertain significance Breast-ovarian cancer, familial 1 2009-08-07 no assertion criteria provided clinical testing

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