ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)

gnomAD frequency: 0.00002  dbSNP: rs757218098
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001346840 SCV001541074 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493786 SCV002800871 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-10-27 criteria provided, single submitter clinical testing
GeneDx RCV001346840 SCV003195245 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001346840 SCV003820466 uncertain significance not provided 2021-10-08 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.