ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr)

gnomAD frequency: 0.00040  dbSNP: rs144120866
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730480 SCV000858217 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336172 SCV001529494 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000730480 SCV001767912 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000730480 SCV002227148 likely benign not provided 2023-12-13 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.