ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) (rs41264699)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000155410 SCV000605609 benign not specified 2017-04-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433970 SCV000510960 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000333986 SCV000450575 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386661 SCV000450576 likely benign WFS1-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155410 SCV000205097 benign not specified 2015-03-02 criteria provided, single submitter clinical testing p.Lys193Gln in exon 5 of WFS1: This variant is not expected to have clinical significance because it has been identified in 0.4% (30/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs41264699).
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445506 SCV000537004 benign Monogenic diabetes 2017-01-13 criteria provided, single submitter research ACMG Criteria:PP3 (5 predictors), BP4 (4 predictors), BS1 (1.3% in SouthEast Asians, ExAC-SAS), BS2 (48 cases and 43 control in type2diabetesgenetics.org and 4 homo in SouthAsian ExAC), BP6 (Partners calls it benign)
PreventionGenetics RCV000155410 SCV000311336 benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.