Submissions for variant NM_000251.3(MSH2):c.942+26_942+29del

dbSNP: rs11309117

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000285648	SCV000430918	uncertain significance	Lynch syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000860041	SCV000999953	benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-03	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262894	SCV001440930	benign	Breast carcinoma	2019-01-01	criteria provided, single submitter	clinical testing	This variant was identified as compound heterozygous.
GeneDx	RCV001672582	SCV001886058	benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Mendelics	RCV001572792	SCV002519561	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256215	SCV002526759	benign	Hereditary cancer-predisposing syndrome	2022-01-27	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001572792	SCV002552206	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002256215	SCV002683302	likely benign	Hereditary cancer-predisposing syndrome	2020-07-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
All of Us Research Program, National Institutes of Health	RCV000285648	SCV004822804	benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572792	SCV001797709	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001572792	SCV001927944	benign	not specified		no assertion criteria provided	clinical testing