Submissions for variant NM_000179.3(MSH6):c.2322A>G (p.Leu774=)

dbSNP: rs1057521386

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440394	SCV000522522	likely benign	not specified	2016-11-11	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.
Ambry Genetics	RCV000568577	SCV000670091	likely benign	Hereditary cancer-predisposing syndrome	2017-06-20	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	RCV000568577	SCV000910411	likely benign	Hereditary cancer-predisposing syndrome	2017-12-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002521623	SCV003467749	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-10-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003886393	SCV004703886	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MSH6: PM2:Supporting, BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004000371	SCV004842072	likely benign	Lynch syndrome	2023-09-17	criteria provided, single submitter	clinical testing