ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2958C>T (p.Thr986=)

dbSNP: rs757866392
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205677 SCV000260465 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491625 SCV000580226 likely benign Hereditary cancer-predisposing syndrome 2016-03-08 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 RCV000491625 SCV000685338 likely benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587841 SCV000695833 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284658 SCV001470559 likely benign not provided 2020-04-12 criteria provided, single submitter clinical testing
GeneDx RCV001284658 SCV001862330 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997615 SCV004839078 likely benign Lynch syndrome 2023-08-28 criteria provided, single submitter clinical testing

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