ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3786G>A (p.Val1262=)

gnomAD frequency: 0.00002  dbSNP: rs760771483
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491699 SCV000580249 likely benign Hereditary cancer-predisposing syndrome 2016-08-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000542829 SCV000624916 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-10-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000491699 SCV000685444 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780467 SCV000917740 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV001683524 SCV001896440 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000491699 SCV002528063 likely benign Hereditary cancer-predisposing syndrome 2021-11-01 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004802097 SCV005424988 likely benign Lynch syndrome 2024-04-16 criteria provided, single submitter clinical testing

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