Submissions for variant NM_000249.4(MLH1):c.545+20A>T

gnomAD frequency: 0.00424  dbSNP: rs121909453

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000202235	SCV000170288	benign	not specified	2013-10-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Vantari Genetics	RCV000157758	SCV000267047	benign	Hereditary cancer-predisposing syndrome	2015-12-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000157758	SCV000684841	benign	Hereditary cancer-predisposing syndrome	2015-03-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000202235	SCV000805973	benign	not specified	2017-10-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000059817	SCV001473767	benign	not provided	2023-08-17	criteria provided, single submitter	clinical testing
Invitae	RCV002054505	SCV002408963	benign	Hereditary nonpolyposis colorectal neoplasms	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000157758	SCV002653019	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149582	SCV003838207	benign	Breast and/or ovarian cancer	2022-03-22	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315514	SCV004015888	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000202235	SCV004024895	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030227	SCV000052894	benign	Lynch syndrome	2012-02-22	no assertion criteria provided	clinical testing
Narod's Lab, University of Toronto	RCV000059817	SCV000091387	not provided	not provided		no assertion provided	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000202235	SCV000257103	benign	not specified		no assertion criteria provided	research
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000202235	SCV001977791	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000202235	SCV001979571	benign	not specified		no assertion criteria provided	clinical testing