Submissions for variant NM_000249.4(MLH1):c.1732-19T>A

gnomAD frequency: 0.00923  dbSNP: rs77120160

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078418	SCV000110264	benign	not specified	2013-06-06	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000030216	SCV000296889	benign	Lynch syndrome	2015-10-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579850	SCV000684767	benign	Hereditary cancer-predisposing syndrome	2022-01-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078418	SCV000805955	benign	not specified	2016-12-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000987182	SCV001136421	likely benign	Colorectal cancer, hereditary nonpolyposis, type 2	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001521972	SCV001731413	benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001689577	SCV001915401	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21056691)
Sema4, Sema4	RCV000579850	SCV002528670	benign	Hereditary cancer-predisposing syndrome	2020-03-26	criteria provided, single submitter	curation
Ambry Genetics	RCV000579850	SCV002713766	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.
CeGaT Center for Human Genetics Tuebingen	RCV001689577	SCV004011453	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MLH1: BS1, BS2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492304	SCV004240748	benign	Breast and/or ovarian cancer	2022-09-14	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000078418	SCV004243151	benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030216	SCV000052883	benign	Lynch syndrome	2012-08-02	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000078418	SCV000257063	uncertain significance	not specified		no assertion criteria provided	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000078418	SCV001799213	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000078418	SCV001808119	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001689577	SCV001905883	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078418	SCV001925517	benign	not specified		no assertion criteria provided	clinical testing