Submissions for variant NM_000535.7(PMS2):c.2274T>C (p.Asn758=)

dbSNP: rs1554294398

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000603666	SCV000721158	likely benign	not specified	2017-07-19	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.
Invitae	RCV000925352	SCV001070886	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-10-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014867	SCV001175632	likely benign	Hereditary cancer-predisposing syndrome	2018-12-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV003886419	SCV004703856	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PMS2: PM2:Supporting, BP4, BP7