ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)

dbSNP: rs2072711060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440096 SCV001643000 likely benign Hereditary breast ovarian cancer syndrome 2024-02-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800995 SCV002046752 uncertain significance not provided 2021-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414049 SCV002674827 likely benign Hereditary cancer-predisposing syndrome 2021-04-22 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230674 SCV003928229 likely benign not specified 2023-04-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007012 SCV004845557 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-11-02 criteria provided, single submitter clinical testing

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