Submissions for variant NM_000249.4(MLH1):c.885-21TC[2]

dbSNP: rs267607804

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000075911	SCV000106932	likely benign	Lynch syndrome	2018-10-18	reviewed by expert panel	curation	Intronic deletion with no effect on splicing
Ambry Genetics	RCV000128946	SCV000172821	likely benign	Hereditary cancer-predisposing syndrome	2015-10-22	criteria provided, single submitter	clinical testing	Co-occurence with mutation in same gene (phase unknown);Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Eurofins Ntd Llc (ga)	RCV000153505	SCV000203025	benign	not specified	2014-02-24	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000153505	SCV000592386	benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000128946	SCV000689928	benign	Hereditary cancer-predisposing syndrome	2015-07-16	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659869	SCV000781753	uncertain significance	Colorectal cancer, hereditary nonpolyposis, type 2	2016-11-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153505	SCV000805984	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000659869	SCV001136389	likely benign	Colorectal cancer, hereditary nonpolyposis, type 2	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001570874	SCV001795240	likely benign	not provided	2018-06-30	criteria provided, single submitter	clinical testing
Invitae	RCV002055082	SCV002403288	benign	Hereditary nonpolyposis colorectal neoplasms	2024-02-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149742	SCV003838864	benign	Breast and/or ovarian cancer	2021-06-22	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000153505	SCV004024903	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001570874	SCV004562454	benign	not provided	2023-01-06	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001570874	SCV001906206	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000153505	SCV001919029	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153505	SCV001976337	benign	not specified		no assertion criteria provided	clinical testing