Submissions for variant NM_000535.7(PMS2):c.711A>G (p.Gln237=)

gnomAD frequency: 0.00001  dbSNP: rs368608818

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462666	SCV000552033	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575513	SCV000674230	likely benign	Hereditary cancer-predisposing syndrome	2017-07-13	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	RCV000575513	SCV000691107	likely benign	Hereditary cancer-predisposing syndrome	2016-08-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001672776	SCV001884800	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821290	SCV002067778	uncertain significance	not specified	2019-01-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001821290	SCV002103536	likely benign	not specified	2022-02-14	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001672776	SCV004219024	likely benign	not provided	2022-09-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004001881	SCV004839928	likely benign	Lynch syndrome	2023-09-18	criteria provided, single submitter	clinical testing