ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2682G>A (p.Gln894=)

dbSNP: rs756239543
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200547 SCV000253100 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477653 SCV000601539 likely benign not provided 2023-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569096 SCV000662492 likely benign Hereditary cancer-predisposing syndrome 2016-07-13 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 RCV000569096 SCV000685310 likely benign Hereditary cancer-predisposing syndrome 2015-11-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506904 SCV002015053 likely benign not specified 2021-10-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000569096 SCV002535761 likely benign Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003996953 SCV004838482 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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