ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)

gnomAD frequency: 0.00077  dbSNP: rs139460397
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723848 SCV000203809 uncertain significance not provided 2014-02-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000154145 SCV000597954 uncertain significance not specified 2016-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000723848 SCV000713905 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000723848 SCV001656137 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000723848 SCV001712985 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137666 SCV003823723 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-03-27 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.