ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.33T>C (p.Pro11=)

dbSNP: rs780178572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630251 SCV000751207 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002457992 SCV002612648 likely benign Hereditary cancer-predisposing syndrome 2019-12-27 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 RCV004002797 SCV004827049 likely benign Lynch syndrome 2023-05-04 criteria provided, single submitter clinical testing

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