ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.348A>G (p.Ala116=)

dbSNP: rs763057312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630281 SCV000751237 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-06-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821771 SCV002071768 likely benign not specified 2021-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002457993 SCV002616075 likely benign Hereditary cancer-predisposing syndrome 2015-08-22 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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