ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.*17G>A

gnomAD frequency: 0.05552  dbSNP: rs3902401
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499240 SCV000589128 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 criteria provided, single submitter research
GeneDx RCV001637052 SCV001848985 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253485 SCV002524172 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499240 SCV002524327 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253484 SCV002524438 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637052 SCV005290254 benign not provided criteria provided, single submitter not provided

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.