ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1914G>A (p.Arg638=)

gnomAD frequency: 0.00001  dbSNP: rs1177447151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552253 SCV000625329 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413440 SCV002720004 likely benign Hereditary cancer-predisposing syndrome 2017-08-14 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.
All of Us Research Program, National Institutes of Health RCV004003741 SCV004823983 likely benign Lynch syndrome 2023-02-24 criteria provided, single submitter clinical testing

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