Submissions for variant NM_000249.4(MLH1):c.1039-8_1039-7insTA

dbSNP: rs535965616

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160559	SCV000211138	benign	Hereditary cancer-predisposing syndrome	2014-07-07	criteria provided, single submitter	clinical testing	The variant is found in HEREDICANCER,BR-OV-HEREDIC panel(s).
Invitae	RCV000195736	SCV000253129	benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000160559	SCV001351740	likely benign	Hereditary cancer-predisposing syndrome	2019-09-03	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262554	SCV001440475	likely benign	Breast carcinoma	2019-01-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000160559	SCV002528611	likely benign	Hereditary cancer-predisposing syndrome	2022-02-11	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001699048	SCV002552488	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000160559	SCV002700662	benign	Hereditary cancer-predisposing syndrome	2014-11-19	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.
PreventionGenetics, part of Exact Sciences	RCV003927527	SCV004741955	likely benign	MLH1-related disorder	2019-06-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529186	SCV001742227	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529186	SCV001797325	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699048	SCV001922878	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529186	SCV001927854	likely benign	not provided		no assertion criteria provided	clinical testing