Submissions for variant NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)

gnomAD frequency: 0.00009  dbSNP: rs587780675

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082858	SCV000166224	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162464	SCV000212826	likely benign	Hereditary cancer-predisposing syndrome	2014-08-01	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	RCV000162464	SCV000537454	likely benign	Hereditary cancer-predisposing syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000122960	SCV000601554	likely benign	not provided	2022-12-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000507567	SCV000729045	benign	not specified	2015-06-24	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000507567	SCV000917773	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000122960	SCV001152297	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	MSH6: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000507567	SCV002071314	likely benign	not specified	2019-10-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162464	SCV002535784	likely benign	Hereditary cancer-predisposing syndrome	2021-04-12	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149836	SCV003838321	likely benign	Breast and/or ovarian cancer	2022-05-03	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315812	SCV004016002	likely benign	Lynch syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000507567	SCV004243098	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530047	SCV004741498	likely benign	MSH6-related disorder	2023-08-07	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health	RCV003997398	SCV004834489	likely benign	Lynch syndrome	2024-01-11	criteria provided, single submitter	clinical testing