ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1698A>C (p.Gly566=)

gnomAD frequency: 0.00001  dbSNP: rs764818222
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721350 SCV000530654 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016)
Ambry Genetics RCV000565877 SCV000676148 likely benign Hereditary cancer-predisposing syndrome 2017-06-13 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.
Color Diagnostics, LLC DBA Color Health RCV000565877 SCV000911936 likely benign Hereditary cancer-predisposing syndrome 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV000874081 SCV001016207 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271498 SCV002556096 likely benign not specified 2022-06-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000493 SCV004837726 likely benign Lynch syndrome 2023-11-02 criteria provided, single submitter clinical testing

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