ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.576C>T (p.Ile192=)

gnomAD frequency: 0.00004  dbSNP: rs864622381
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204572 SCV000260387 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568612 SCV000669753 likely benign Hereditary cancer-predisposing syndrome 2017-06-08 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.
GeneDx RCV000615464 SCV000713928 likely benign not specified 2017-12-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000568612 SCV001342617 likely benign Hereditary cancer-predisposing syndrome 2019-07-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568612 SCV002534537 likely benign Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000615464 SCV003928879 likely benign not specified 2023-04-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997612 SCV004828455 likely benign Lynch syndrome 2023-04-03 criteria provided, single submitter clinical testing

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