ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3540A>C (p.Ser1180=)

gnomAD frequency: 0.00008  dbSNP: rs777096746
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163061 SCV000213555 likely benign Hereditary cancer-predisposing syndrome 2016-04-05 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 RCV000199438 SCV000253108 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163061 SCV000911798 likely benign Hereditary cancer-predisposing syndrome 2016-04-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193102 SCV001361710 likely benign not specified 2019-12-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284015 SCV001469569 likely benign not provided 2020-02-21 criteria provided, single submitter clinical testing
GeneDx RCV001284015 SCV001942364 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995229 SCV004835088 likely benign Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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