ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1145-17C>T

gnomAD frequency: 0.00003  dbSNP: rs587781110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127459 SCV000171024 benign not specified 2014-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000580686 SCV000686099 likely benign Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055750 SCV002343375 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-02 criteria provided, single submitter clinical testing

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