ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)

gnomAD frequency: 0.00004  dbSNP: rs370432538
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082291 SCV000114242 uncertain significance not provided 2013-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477242 SCV002786432 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2022-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000082291 SCV002985953 likely benign not provided 2023-11-18 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.