ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.630A>G (p.Lys210=)

gnomAD frequency: 0.00001  dbSNP: rs765847615
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001079562 SCV000285145 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575270 SCV000663431 likely benign Hereditary cancer-predisposing syndrome 2015-03-03 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.
PreventionGenetics, part of Exact Sciences RCV000679361 SCV000806219 likely benign not provided 2017-05-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679361 SCV000889634 likely benign not provided 2022-09-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000575270 SCV000903601 likely benign Hereditary cancer-predisposing syndrome 2018-05-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264498 SCV001442680 likely benign not specified 2020-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000679361 SCV001915192 benign not provided 2015-08-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575270 SCV002530371 likely benign Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003998794 SCV004839947 likely benign Lynch syndrome 2024-07-20 criteria provided, single submitter clinical testing

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