ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.5266C>T (p.Arg1756Trp)

gnomAD frequency: 0.00006  dbSNP: rs139003168
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764993 SCV001989544 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992541 SCV004809787 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2024-04-04 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.