Submissions for variant NM_000535.7(PMS2):c.1026A>G (p.Gln342=)

dbSNP: rs561993366

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420849	SCV000527518	likely benign	not specified	2016-05-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542582	SCV000625498	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001017015	SCV001178035	likely benign	Hereditary cancer-predisposing syndrome	2018-02-20	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	RCV001017015	SCV001733760	likely benign	Hereditary cancer-predisposing syndrome	2020-06-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000441	SCV004839859	likely benign	Lynch syndrome	2023-12-01	criteria provided, single submitter	clinical testing