Submissions for variant NM_000251.3(MSH2):c.1194A>G (p.Ala398=)

gnomAD frequency: 0.00001  dbSNP: rs1060504412

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462552	SCV000559182	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000567947	SCV000676077	likely benign	Hereditary cancer-predisposing syndrome	2016-02-16	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	RCV000567947	SCV000684915	likely benign	Hereditary cancer-predisposing syndrome	2017-03-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000781565	SCV000919716	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001643182	SCV001857406	likely benign	not provided	2019-09-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000781565	SCV002071792	likely benign	not specified	2021-08-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001643182	SCV004146070	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	MSH2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004002133	SCV004832568	likely benign	Lynch syndrome	2023-09-04	criteria provided, single submitter	clinical testing