ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3477C>T (p.Tyr1159=)

dbSNP: rs398123231
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165527 SCV000216259 likely benign Hereditary cancer-predisposing syndrome 2014-08-14 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 RCV000524177 SCV000561477 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165527 SCV000690359 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194334 SCV001363795 likely benign not specified 2020-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001682754 SCV001896104 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165527 SCV002528033 likely benign Hereditary cancer-predisposing syndrome 2022-03-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001682754 SCV002774196 likely benign not provided 2023-01-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997090 SCV004835076 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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