ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) (rs202110635)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000371450 SCV000335678 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765860 SCV000897256 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000371450 SCV001069166 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000371450 SCV001142932 uncertain significance not provided 2018-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000371450 SCV001756101 likely benign not provided 2020-06-29 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.