Submissions for variant NM_000251.3(MSH2):c.942+17_942+29del

dbSNP: rs11309117

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160642	SCV000211244	benign	Hereditary cancer-predisposing syndrome	2014-06-09	criteria provided, single submitter	clinical testing	The variant is found in HEREDICANCER,COLYNCH-HEREDIC panel(s).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238821	SCV000296895	benign	Lynch syndrome	2015-09-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000507718	SCV000601494	benign	not specified	2016-11-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000160642	SCV000690145	benign	Hereditary cancer-predisposing syndrome	2017-06-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000160642	SCV002526770	benign	Hereditary cancer-predisposing syndrome	2020-03-28	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000507718	SCV002552212	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000160642	SCV002682922	benign	Hereditary cancer-predisposing syndrome	2017-03-18	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.
Invitae	RCV002516432	SCV003243173	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-07-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149977	SCV003838298	benign	Breast and/or ovarian cancer	2022-04-01	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000160642	SCV004014985	benign	Hereditary cancer-predisposing syndrome	2023-05-16	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699213	SCV001921444	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000507718	SCV001963219	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001699213	SCV002035586	likely benign	not provided		no assertion criteria provided	clinical testing