ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.885G>T (p.Arg295=)

dbSNP: rs786201615
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233668 SCV000285158 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-04-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583078 SCV000691121 likely benign Hereditary cancer-predisposing syndrome 2017-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583078 SCV001179655 likely benign Hereditary cancer-predisposing syndrome 2019-05-15 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477795 SCV004219029 likely benign not provided 2023-04-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998796 SCV004839886 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing

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