Submissions for variant NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup)

dbSNP: rs397517197

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038658	SCV000062336	benign	not specified	2015-06-19	criteria provided, single submitter	clinical testing	p.Asp797dup in exon 8 of WFS1: This variant is not expected to have clinical sig nificance it has been identified in 0.7% (124/16292) of South Asian chromosomes, with two homozygote individuals, by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs397517197).
GeneDx	RCV000658992	SCV000583341	likely benign	not provided	2021-06-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25740874, 12754709)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000658992	SCV000605611	likely benign	not provided	2023-10-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658992	SCV000780795	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	WFS1: BS2
Invitae	RCV000658992	SCV001018435	benign	not provided	2024-01-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914948	SCV004728440	benign	WFS1-related condition	2019-07-03	criteria provided, single submitter	clinical testing	This variant is classified as 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	RCV000658992	SCV002034631	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000658992	SCV002036832	likely benign	not provided		no assertion criteria provided	clinical testing