ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1062C>T (p.Gly354=)

dbSNP: rs730881748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001485768 SCV001690215 likely benign Hereditary nonpolyposis colorectal neoplasms 2018-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408718 SCV002713070 likely benign Hereditary cancer-predisposing syndrome 2020-10-04 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 RCV003998469 SCV004836036 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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