Submissions for variant NM_000535.7(PMS2):c.1674C>T (p.Thr558=)

gnomAD frequency: 0.00001  dbSNP: rs876658134

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000216348	SCV000272966	likely benign	Hereditary cancer-predisposing syndrome	2014-11-06	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	RCV000476721	SCV000562218	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000216348	SCV000686151	likely benign	Hereditary cancer-predisposing syndrome	2015-07-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586438	SCV000697306	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001668385	SCV001888008	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000586438	SCV002550707	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001668385	SCV002774215	likely benign	not provided	2021-07-27	criteria provided, single submitter	clinical testing