ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.721C>A (p.Pro241Thr)

dbSNP: rs1555593260
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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 RCV000508560 SCV000600435 uncertain significance not specified 2017-06-16 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003157615 SCV003847992 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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