ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.496G>C (p.Val166Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003350722 SCV004055849 likely benign Hereditary cancer-predisposing syndrome 2023-06-21 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.
Baylor Genetics RCV003459848 SCV004196843 uncertain significance Lynch syndrome 1 2023-05-12 criteria provided, single submitter clinical testing

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