Submissions for variant NM_000251.3(MSH2):c.714T>C (p.Tyr238=)

gnomAD frequency: 0.00001  dbSNP: rs369670665

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231292	SCV000284178	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257530	SCV002534557	likely benign	Hereditary cancer-predisposing syndrome	2021-05-21	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002282070	SCV002570546	likely benign	not specified	2022-07-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002257530	SCV002662750	likely benign	Hereditary cancer-predisposing syndrome	2020-11-12	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477789	SCV004221014	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246888	SCV005898462	benign	Lynch syndrome 1	2024-12-05	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.