ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3876A>C (p.Gly1292=)

dbSNP: rs1558393596
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776687 SCV000912313 likely benign Hereditary cancer-predisposing syndrome 2017-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776687 SCV001182940 likely benign Hereditary cancer-predisposing syndrome 2019-02-14 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.
Invitae RCV002068525 SCV002440207 likely benign Hereditary nonpolyposis colorectal neoplasms 2021-04-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001480 SCV004835157 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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