ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)

gnomAD frequency: 0.00003  dbSNP: rs765800403
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) RCV000593378 SCV000708906 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593378 SCV002173700 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532655 SCV003531552 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.17869G>A (p.A5957T) alteration is located in exon 84 (coding exon 84) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 17869, causing the alanine (A) at amino acid position 5957 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.