ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2964C>A (p.Arg988=)

gnomAD frequency: 0.00006  dbSNP: rs144288981
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205737 SCV000260274 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001711980 SCV000515974 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580377 SCV000685340 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421482 SCV000919749 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580377 SCV001178812 likely benign Hereditary cancer-predisposing syndrome 2017-04-11 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 RCV003997607 SCV004839122 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing

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