ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.84-4G>A

gnomAD frequency: 0.00006  dbSNP: rs778578725
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
Invitae RCV000982380 SCV001130394 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030067 SCV004878125 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-11-21 criteria provided, single submitter clinical testing The c.84-4G>A intronic alteration consists of a G to A substitution 4 nucleotides before coding exon 2 in the GRHPR gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274436 SCV001458619 likely benign Primary hyperoxaluria, type II 2020-04-13 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.