ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5550G>A (p.Leu1850=)

dbSNP: rs786201502
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528581 SCV000636053 likely benign Hereditary breast ovarian cancer syndrome 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348255 SCV002654033 likely benign Hereditary cancer-predisposing syndrome 2022-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eone-Diagnomics Genome Center RCV000467023 SCV000536939 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2017-02-17 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000467023 SCV001242132 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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