ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)

gnomAD frequency: 0.00169  dbSNP: rs35789242
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Total submissions: 8
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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 RCV000152678 SCV000202044 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Tyr510Tyr in Exon 08 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.7% (26/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35789242)."
PreventionGenetics,PreventionGenetics RCV000152678 SCV000311313 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000389673 SCV000450622 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 RCV000295433 SCV000450623 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000756924 SCV000515272 likely benign not provided 2021-05-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756924 SCV000884911 benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Invitae RCV000756924 SCV001012171 benign not provided 2021-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756924 SCV001371197 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing

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