Submissions for variant NM_000179.3(MSH6):c.3646+91T>C

dbSNP: rs3136359

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000074900	SCV000108113	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	MAF >1%
Eurofins Ntd Llc (ga)	RCV000202013	SCV000859445	benign	not specified	2018-01-30	criteria provided, single submitter	clinical testing
Invitae	RCV001520265	SCV001729326	benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001709479	SCV001938806	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28874130, 28932927)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315589	SCV004015971	benign	Lynch syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000202013	SCV004233072	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 75% of patients studied by a panel of primary immunodeficiencies. Number of patients: 71. Only high quality variants are reported.
Mayo Clinic Laboratories, Mayo Clinic	RCV000202013	SCV000257267	benign	not specified		no assertion criteria provided	research
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000202013	SCV001906116	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000202013	SCV001956167	benign	not specified		no assertion criteria provided	clinical testing