Submissions for variant NM_000179.3(MSH6):c.457+52T>A

gnomAD frequency: 0.29585  dbSNP: rs3136282

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000074995	SCV000108213	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	MAF >1%
Counsyl	RCV000412274	SCV000488266	benign	Lynch syndrome 5	2016-02-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001447	SCV001158688	benign	not specified	2018-07-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001650891	SCV001869811	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000412274	SCV004015976	benign	Lynch syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV001001447	SCV004233526	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 39% of patients studied by a panel of primary immunodeficiencies. Number of patients: 37. Only high quality variants are reported.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001001447	SCV001906124	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001001447	SCV001951513	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001001447	SCV001974937	benign	not specified		no assertion criteria provided	clinical testing