ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.251-12A>C

gnomAD frequency: 0.00001  dbSNP: rs562762722
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160902 SCV000211596 benign not specified 2014-09-26 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 RCV000580139 SCV000686184 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002053936 SCV002444980 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998528 SCV004822630 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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