ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3388T>C (p.Ser1130Pro)

dbSNP: rs2154320882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763607 SCV001997886 uncertain significance not provided 2019-09-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Also known as BRCA1 c.3507T>C
University of Washington Department of Laboratory Medicine, University of Washington RCV003158917 SCV003850546 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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