Submissions for variant NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)

gnomAD frequency: 0.00253  dbSNP: rs34625968

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000074947	SCV000108162	likely benign	Lynch syndrome	2013-09-05	reviewed by expert panel	research	MAF >1% in African population
Invitae	RCV000524193	SCV000153885	benign	Hereditary nonpolyposis colorectal neoplasms	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000132026	SCV000187085	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001354037	SCV000211365	likely benign	not provided	2020-07-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28531214, 21153778, 23047549, 22290698)
Color Diagnostics, LLC DBA Color Health	RCV000132026	SCV000537444	likely benign	Hereditary cancer-predisposing syndrome	2015-02-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000212691	SCV000805899	benign	not specified	2017-08-11	criteria provided, single submitter	clinical testing
Mendelics	RCV000986742	SCV001135851	likely benign	Lynch syndrome 5	2019-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000212691	SCV002066169	benign	not specified	2018-07-20	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000132026	SCV002528084	benign	Hereditary cancer-predisposing syndrome	2020-10-23	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149724	SCV003838330	likely benign	Breast and/or ovarian cancer	2022-05-04	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000212691	SCV004024818	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000132026	SCV004228119	benign	Hereditary cancer-predisposing syndrome	2023-09-12	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354037	SCV000592658	uncertain significance	not provided		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000212691	SCV000691942	uncertain significance	not specified		no assertion criteria provided	clinical testing