ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.246T>C (p.Pro82=)

gnomAD frequency: 0.00001  dbSNP: rs786201527
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163818 SCV000214403 likely benign Hereditary cancer-predisposing syndrome 2014-10-24 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 RCV000228948 SCV000283751 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001704180 SCV000513673 likely benign not provided 2020-03-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000439295 SCV000601533 likely benign not specified 2017-02-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163818 SCV000908341 likely benign Hereditary cancer-predisposing syndrome 2018-04-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000439295 SCV001774577 likely benign not specified 2021-07-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995287 SCV004828659 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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