ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.5068T>G (p.Cys1690Gly)

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
Ambry Genetics RCV002678574 SCV003553869 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.5068T>G (p.C1690G) alteration is located in exon 38 (coding exon 38) of the ARFGEF2 gene. This alteration results from a T to G substitution at nucleotide position 5068, causing the cysteine (C) at amino acid position 1690 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003485825 SCV004234485 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2023-04-17 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.