Submissions for variant NM_000249.4(MLH1):c.1038+51C>T

gnomAD frequency: 0.00582  dbSNP: rs55986674

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000490562	SCV000106072	likely benign	Lynch syndrome 1	2014-10-10	reviewed by expert panel	research	MAF >1% in a specific ethnic group (African population)
Color Diagnostics, LLC DBA Color Health	RCV000580138	SCV000684710	benign	Hereditary cancer-predisposing syndrome	2014-12-19	criteria provided, single submitter	clinical testing
Counsyl	RCV000663015	SCV000786032	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2018-02-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000732069	SCV000859961	benign	not specified	2018-03-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521971	SCV001731412	benign	Hereditary nonpolyposis colorectal neoplasms	2024-11-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001711172	SCV001939132	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11726306)
Sema4, Sema4	RCV000580138	SCV002536426	benign	Hereditary cancer-predisposing syndrome	2020-02-06	criteria provided, single submitter	curation
Ambry Genetics	RCV000580138	SCV002696689	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	RCV000663015	SCV004015874	likely benign	Colorectal cancer, hereditary nonpolyposis, type 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711172	SCV005258443	likely benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005234966	SCV005880832	benign	Muir-Torré syndrome	2025-02-01	criteria provided, single submitter	clinical testing