ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.129T>C (p.Tyr43=)

gnomAD frequency: 0.00001  dbSNP: rs63750894
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491253 SCV000580577 likely benign Hereditary cancer-predisposing syndrome 2014-10-09 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 RCV000603456 SCV000713926 likely benign not specified 2017-04-28 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 RCV000491253 SCV000910482 likely benign Hereditary cancer-predisposing syndrome 2018-10-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000491253 SCV002528830 likely benign Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation
Invitae RCV002523984 SCV003488853 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-06-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003470 SCV004828958 likely benign Lynch syndrome 2023-03-07 criteria provided, single submitter clinical testing

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