Submissions for variant NM_000251.3(MSH2):c.942+24_942+29del

dbSNP: rs11309117

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000861684	SCV001002066	benign	not provided	2017-05-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000986662	SCV001135719	benign	Lynch syndrome 1	2023-08-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000861684	SCV001158896	benign	not provided	2023-11-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171072	SCV001333742	likely benign	Breast and/or ovarian cancer	2019-04-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002259038	SCV002526760	likely benign	Hereditary cancer-predisposing syndrome	2021-12-16	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001796282	SCV002552210	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975375	SCV004793491	likely benign	MSH2-related condition	2021-03-02	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).
Clinical Genetics, Academic Medical Center	RCV001796282	SCV002034479	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796282	SCV002036926	benign	not specified		no assertion criteria provided	clinical testing