Submissions for variant NM_006005.3(WFS1):c.1185C>T (p.Val395=)

gnomAD frequency: 0.56648  dbSNP: rs1801206

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038635	SCV000062313	benign	not specified	2012-02-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038635	SCV000113260	benign	not specified	2013-07-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038635	SCV000311306	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344908	SCV000450601	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000380942	SCV000450602	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001523397	SCV001158748	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001523397	SCV001733093	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001523397	SCV001901735	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12107816)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463627	SCV002605208	uncertain significance	Wolfram syndrome 1		criteria provided, single submitter	research	Mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. rs1801206 variant is also seen in patients with Diabetes Mellitus. However, the role of this particular variant rs1801206 is yet to be ascertained.
Genetic Services Laboratory, University of Chicago	RCV000038635	SCV000153522	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000038635	SCV001743521	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038635	SCV001957945	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038635	SCV001974700	benign	not specified		no assertion criteria provided	clinical testing