Submissions for variant NM_000251.3(MSH2):c.942+20_942+29del

dbSNP: rs11309117

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454944	SCV000539679	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 19% (374/1940) African chromosomes
Invitae	RCV001452801	SCV001656474	likely benign	Hereditary nonpolyposis colorectal neoplasms	2021-02-26	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798269	SCV002042113	likely benign	Breast and/or ovarian cancer	2019-09-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257401	SCV002526766	benign	Hereditary cancer-predisposing syndrome	2020-01-02	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000454944	SCV002760636	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997183	SCV004829061	likely benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing