ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1209C>G (p.Ser403=)

dbSNP: rs147399413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219535 SCV000273445 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 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.
Invitae RCV000630278 SCV000751234 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000219535 SCV001353137 likely benign Hereditary cancer-predisposing syndrome 2020-03-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997796 SCV004839834 likely benign Lynch syndrome 2023-02-15 criteria provided, single submitter clinical testing

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