ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.117G>C (p.Arg39=)

dbSNP: rs63750974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178966 SCV001343534 likely benign Hereditary cancer-predisposing syndrome 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV001414391 SCV001616527 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001178966 SCV002636811 likely benign Hereditary cancer-predisposing syndrome 2017-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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