ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2292T>C (p.Thr764=)

dbSNP: rs1553413668
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573488 SCV000662553 likely benign Hereditary cancer-predisposing syndrome 2017-01-26 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 RCV000573488 SCV000912498 likely benign Hereditary cancer-predisposing syndrome 2017-11-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000630263 SCV001470863 likely benign not provided 2019-10-14 criteria provided, single submitter clinical testing
Invitae RCV001497560 SCV001702294 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-04-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000886 SCV004841994 likely benign Lynch syndrome 2023-09-17 criteria provided, single submitter clinical testing

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