ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)

dbSNP: rs544518097
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656574 SCV000519144 likely benign not provided 2020-01-02 criteria provided, single submitter clinical testing
Invitae RCV001080984 SCV000561529 benign Hereditary nonpolyposis colorectal neoplasms 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572086 SCV000662441 likely benign Hereditary cancer-predisposing syndrome 2016-02-14 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.
Color Diagnostics, LLC DBA Color Health RCV000572086 SCV000685395 likely benign Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000656574 SCV000888272 benign not provided 2022-10-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002230245 SCV002511420 benign not specified 2022-04-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572086 SCV002528017 benign Hereditary cancer-predisposing syndrome 2020-10-12 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002230245 SCV002552338 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996055 SCV004835061 likely benign Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656574 SCV000778623 likely benign not provided 2017-10-26 no assertion criteria provided clinical testing

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