ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.66C>T (p.Phe22=)

dbSNP: rs200632093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001481798 SCV001686148 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368478 SCV002664887 likely benign Hereditary cancer-predisposing syndrome 2021-07-13 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 RCV002368478 SCV004356567 likely benign Hereditary cancer-predisposing syndrome 2023-02-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007150 SCV004834120 likely benign Lynch syndrome 2023-07-19 criteria provided, single submitter clinical testing

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