ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) (rs147834269)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155350 SCV000205036 benign not specified 2014-09-12 criteria provided, single submitter clinical testing Glu737Lys in exon 8 of WFS1: This variant is not expected to have clinical signi ficance because it has been identified in 4/8568 of European American chromosome s by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSN P rs147834269) and in 6.7% (12/178) of Japanese chromosomes by the 1000 Genomes Project (dbSNP rs147834269). It is reported as a benign variant in 3 publication s (Ohtsuki 2000, Gomez-Zaera 2001, Baek 2012).
GeneDx RCV000155350 SCV000252498 likely benign not specified 2016-08-04 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.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490497 SCV000267560 uncertain significance Diabetes mellitus AND insipidus with optic atrophy AND deafness 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV000264975 SCV000450660 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324875 SCV000450661 likely benign WFS1-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132656 SCV000172607 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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