ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1951A>C (p.Lys651Gln)

dbSNP: rs1555590804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582448 SCV000688355 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000989901 SCV001140591 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000582448 SCV003849609 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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