ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5667T>C (p.Ile1889=)

dbSNP: rs1053022395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758911 SCV000887854 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176103 SCV001339946 likely benign Hereditary cancer-predisposing syndrome 2018-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462564 SCV001666483 likely benign Hereditary breast ovarian cancer syndrome 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001176103 SCV002652390 likely benign Hereditary cancer-predisposing syndrome 2020-03-26 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.
All of Us Research Program, National Institutes of Health RCV004802410 SCV005424493 likely benign BRCA2-related cancer predisposition 2024-04-10 criteria provided, single submitter clinical testing

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