ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3386T>C (p.Ile1129Thr)

dbSNP: rs1567791871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759519 SCV000888889 uncertain significance not provided 2017-09-02 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158104 SCV003850557 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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