ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3488C>T (p.Thr1163Ile)

dbSNP: rs80356918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV003157366 SCV003846683 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).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112104 SCV000144776 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496279 SCV000587317 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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