ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.461-9A>G (rs10010131)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038664 SCV000231090 benign not specified 2014-08-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000038664 SCV000153536 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.
Illumina Clinical Services Laboratory,Illumina RCV000273205 SCV000450571 benign WFS1-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325882 SCV000450572 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038664 SCV000062342 benign not specified 2012-02-28 criteria provided, single submitter clinical testing
OMIM RCV000004785 SCV000024961 pathogenic Diabetes mellitus, noninsulin-dependent, association with 2007-08-01 no assertion criteria provided literature only
PreventionGenetics RCV000038664 SCV000311335 benign not specified criteria provided, single submitter clinical testing

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