ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2094G>A (p.Glu698=)

gnomAD frequency: 0.00001  dbSNP: rs773555449
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220343 SCV000277839 likely benign Hereditary cancer-predisposing syndrome 2015-08-10 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 RCV000427809 SCV000515459 likely benign not specified 2017-10-13 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 RCV001087353 SCV000625345 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679303 SCV000806023 likely benign not provided 2017-10-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000220343 SCV001358452 likely benign Hereditary cancer-predisposing syndrome 2019-05-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000427809 SCV001437215 likely benign not specified 2020-09-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679303 SCV001469809 likely benign not provided 2019-12-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998558 SCV004827772 likely benign Lynch syndrome 2023-04-03 criteria provided, single submitter clinical testing

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