ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2268A>C (p.Gly756=)

dbSNP: rs142246608
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088076 SCV000260064 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491890 SCV000580261 likely benign Hereditary cancer-predisposing syndrome 2016-03-17 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 RCV000491890 SCV000685272 likely benign Hereditary cancer-predisposing syndrome 2015-04-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000205571 SCV001134409 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000205571 SCV001886021 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997590 SCV004841927 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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