Submissions for variant NM_000249.4(MLH1):c.885-24T>A

gnomAD frequency: 0.00164  dbSNP: rs201594027

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000075913	SCV000106933	likely benign	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Intronic substitution with no effect on splicing & MAF 0.01-1%
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000202112	SCV002552447	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000202112	SCV000257119	likely benign	not specified		no assertion criteria provided	clinical testing
University of Washington Department of Laboratory Medicine, University of Washington	RCV000209228	SCV000265258	likely benign	Hereditary cancer-predisposing syndrome	2015-12-01	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723645	SCV001953162	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000202112	SCV001974154	benign	not specified		no assertion criteria provided	clinical testing