Submissions for variant NM_000249.4(MLH1):c.1668-19A>G

gnomAD frequency: 0.41821  dbSNP: rs9876116

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000030215	SCV000106295	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	MAF >1%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030215	SCV000052882	benign	Lynch syndrome	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
Eurofins Ntd Llc (ga)	RCV000078417	SCV000110263	benign	not specified	2014-06-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078417	SCV000303146	benign	not specified		criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000447202	SCV000537326	benign	Hereditary cancer-predisposing syndrome	2015-03-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001353425	SCV000604228	benign	not provided	2024-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001353425	SCV001898123	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054503	SCV002406683	benign	Hereditary nonpolyposis colorectal neoplasms	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000447202	SCV002706096	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000608854	SCV004015861	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001353425	SCV005238092	benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005234799	SCV005880844	benign	Muir-Torré syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000608854	SCV005899506	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2024-11-25	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Mayo Clinic Laboratories, Mayo Clinic	RCV000078417	SCV000257057	benign	not specified		no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001353425	SCV000592417	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608854	SCV000734269	benign	Colorectal cancer, hereditary nonpolyposis, type 2		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000078417	SCV001905853	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078417	SCV001920907	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078417	SCV001928639	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078417	SCV001959471	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078417	SCV001964775	benign	not specified		no assertion criteria provided	clinical testing