ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.333C>T (p.Tyr111=)

gnomAD frequency: 0.00001  dbSNP: rs786202772
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165755 SCV000216499 likely benign Hereditary cancer-predisposing syndrome 2014-09-17 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 RCV000524171 SCV000283799 benign Hereditary nonpolyposis colorectal neoplasms 2023-12-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000226058 SCV000430949 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000410069 SCV000487789 likely benign Lynch syndrome 5 2015-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165755 SCV000685390 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000609107 SCV000695860 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV001706084 SCV000718709 likely benign not provided 2019-07-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165755 SCV002528013 likely benign Hereditary cancer-predisposing syndrome 2022-01-06 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000410069 SCV004018893 benign Lynch syndrome 5 2023-03-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001706084 SCV004221220 likely benign not provided 2022-10-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000226058 SCV004828825 likely benign Lynch syndrome 2023-11-30 criteria provided, single submitter clinical testing

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