Submissions for variant NM_000535.7(PMS2):c.750C>T (p.Ser250=)

gnomAD frequency: 0.00001  dbSNP: rs200439295

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166458	SCV000217254	likely benign	Hereditary cancer-predisposing syndrome	2014-10-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462971	SCV000562216	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-26	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000508250	SCV000601858	likely benign	not specified	2016-12-08	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166458	SCV000686233	likely benign	Hereditary cancer-predisposing syndrome	2016-02-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000508250	SCV000729329	likely benign	not specified	2018-02-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000508250	SCV000920045	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000987843	SCV001137315	likely benign	Lynch syndrome 4	2019-05-28	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000508250	SCV004243287	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005396489	SCV006053487	likely benign	Lynch syndrome 4; Mismatch repair cancer syndrome 4	2023-03-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004742296	SCV005359597	likely benign	PMS2-related disorder	2022-03-09	no assertion criteria provided	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).