Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038659 | SCV000062337 | benign | not specified | 2012-02-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000038659 | SCV000113269 | benign | not specified | 2013-07-30 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000038659 | SCV000311326 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000292566 | SCV000450683 | 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. |
Illumina Laboratory Services, |
RCV000352148 | SCV000450684 | 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. |
ARUP Laboratories, |
RCV001523402 | SCV000884906 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001523402 | SCV001733098 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001523402 | SCV001941483 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12107816) |
Clinical Genomics, |
RCV002287353 | SCV002577622 | benign | Diabetes mellitus | criteria provided, single submitter | research | Potent mutations of WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. rs1046314 is seen to be associated with Diabetes Mellitus. | |
Clinical Genomics, |
RCV002287352 | SCV002577664 | benign | Sensorineural hearing loss disorder | criteria provided, single submitter | research | Potent mutations of WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. Prevalence of rs1046314 is seen with sensoneural deafness. | |
Genetic Services Laboratory, |
RCV000038659 | SCV000153532 | 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, |
RCV000038659 | SCV001742691 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000038659 | SCV001954736 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000038659 | SCV001966929 | benign | not specified | no assertion criteria provided | clinical testing |