Submissions for variant NM_006005.3(WFS1):c.1294C>T (p.Leu432=)

dbSNP: rs35031397

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152673	SCV000202035	likely benign	not specified	2013-04-11	criteria provided, single submitter	clinical testing	Leu432Leu in exon 8 of WFS1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
GeneDx	RCV000838006	SCV000979870	likely benign	not provided	2021-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000838006	SCV001018160	benign	not provided	2023-12-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157343	SCV001318905	likely benign	Autosomal dominant nonsyndromic hearing loss 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001157344	SCV001318906	benign	WFS1-Related Spectrum Disorders	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences	RCV004532713	SCV004726392	benign	WFS1-related disorder	2019-09-04	no assertion criteria provided	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).