ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) (rs3821945)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155412 SCV000205102 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Asp866Asn in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 6.1% (5/82) of chromosomes from a pop ulation in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs38219 45).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155412 SCV000232694 benign not specified 2014-06-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376917 SCV000450705 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000284874 SCV000450706 likely benign Autosomal dominant nonsyndromic deafness 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000155412 SCV000515279 benign not specified 2015-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664098 SCV000787550 likely benign Monogenic diabetes 2017-06-01 criteria provided, single submitter research ACMG Criteria:PP3 (6 predictors), BP4 (5 predictors), BP6 (called benign by Partners, GeneDx and Emory)
Invitae RCV000871130 SCV001012736 benign not provided 2020-11-28 criteria provided, single submitter clinical testing

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