Submissions for variant NM_000179.3(MSH6):c.3441T>G (p.Ala1147=)

gnomAD frequency: 0.00001  dbSNP: rs1389565996

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000534979	SCV000624866	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-06-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571845	SCV000662418	likely benign	Hereditary cancer-predisposing syndrome	2015-10-28	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	RCV000571845	SCV000690356	likely benign	Hereditary cancer-predisposing syndrome	2017-03-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000608626	SCV000716688	likely benign	not specified	2017-03-09	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000608626	SCV004024805	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003693	SCV004835068	likely benign	Lynch syndrome	2023-12-13	criteria provided, single submitter	clinical testing