ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.681C>T (p.Ile227=)

gnomAD frequency: 0.00003  dbSNP: rs188813057
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217572 SCV000276576 likely benign Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001084446 SCV000562196 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000217572 SCV000686225 likely benign Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588055 SCV000697376 likely benign not specified 2019-08-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000462024 SCV001134606 likely benign not provided 2022-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000462024 SCV001942152 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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