Submissions for variant NM_000179.3(MSH6):c.2217A>G (p.Thr739=)

dbSNP: rs876658887

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000222330	SCV000274705	likely benign	Hereditary cancer-predisposing syndrome	2015-03-19	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.
GeneDx	RCV000438943	SCV000513689	likely benign	not specified	2016-06-28	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	RCV000981402	SCV001129373	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000222330	SCV002535712	likely benign	Hereditary cancer-predisposing syndrome	2021-01-26	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003997875	SCV004821444	likely benign	Lynch syndrome	2023-02-15	criteria provided, single submitter	clinical testing