ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2754T>C (p.His918=)

dbSNP: rs1057521383
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703719 SCV000522519 likely benign not provided 2020-03-16 criteria provided, single submitter clinical testing
Invitae RCV000477314 SCV000561446 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581135 SCV000685321 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581135 SCV001177467 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001703719 SCV004221192 likely benign not provided 2022-10-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000370 SCV004840851 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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