ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.903+4T>A

gnomAD frequency: 0.00003  dbSNP: rs753803330
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087924 SCV000285161 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000759206 SCV000514197 likely benign not provided 2021-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572059 SCV000663539 likely benign Hereditary cancer-predisposing syndrome 2018-12-19 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.
Color Diagnostics, LLC DBA Color Health RCV000572059 SCV000686252 likely benign Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759206 SCV000888421 benign not provided 2019-02-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572059 SCV002530399 likely benign Hereditary cancer-predisposing syndrome 2021-07-26 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003955311 SCV004767540 likely benign PMS2-related disorder 2019-11-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003998798 SCV004826847 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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