ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.852A>G (p.Ser284=)

gnomAD frequency: 0.00002  dbSNP: rs766177007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708735 SCV000822138 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000872839 SCV001014720 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000708735 SCV001353841 likely benign Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708735 SCV002676743 likely benign Hereditary cancer-predisposing syndrome 2015-09-30 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 RCV003999790 SCV004839899 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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