ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1842A>C (p.Gly614=)

gnomAD frequency: 0.00005  dbSNP: rs923770168
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434896 SCV000522436 likely benign not specified 2017-08-03 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.
Invitae RCV000473613 SCV000559175 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013368 SCV001173947 likely benign Hereditary cancer-predisposing syndrome 2019-11-08 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.
Color Diagnostics, LLC DBA Color Health RCV001013368 SCV001342121 likely benign Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800669 SCV002046742 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000366 SCV004829752 likely benign Lynch syndrome 2023-12-07 criteria provided, single submitter clinical testing

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