ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2250C>T (p.Ala750=)

gnomAD frequency: 0.00010  dbSNP: rs369498603
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000220143 SCV000271195 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala750Ala in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2/6990 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
GeneDx RCV000993558 SCV000529216 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000220143 SCV000597978 likely benign not specified 2016-06-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993558 SCV001146653 likely benign not provided 2019-05-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001156085 SCV001317567 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 RCV001156086 SCV001317568 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000993558 SCV001334571 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV000993558 SCV002363403 likely benign not provided 2021-12-05 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000993558 SCV002037025 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000993558 SCV002038469 likely benign not provided no assertion criteria provided clinical testing

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