ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile)

gnomAD frequency: 0.00620  dbSNP: rs61752020
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
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625168 SCV000743960 likely benign Autosomal dominant slowed nerve conduction velocity 2016-03-10 criteria provided, single submitter clinical testing
Invitae RCV000892341 SCV001036205 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892341 SCV002586216 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ARHGEF10: BP4, BS2
Clinical Genetics, Academic Medical Center RCV001698669 SCV001917045 benign not specified no assertion criteria provided 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.