ClinVar Miner

Variants in gene PRKG1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
1 0 66 88 58 2 203

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign not provided total
not provided 1 18 25 43 0 87
Aortic aneurysm, familial thoracic 8 1 34 17 14 1 65
Cardiovascular phenotype 1 20 18 6 0 45
not specified 0 0 32 13 0 44
Connective tissue disorder 0 3 9 0 0 12
Thoracic aortic aneurysm and aortic dissection 0 2 1 0 0 3
See cases 0 0 1 1 0 2
Gestational diabetes mellitus uncontrolled 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 11 55 43 0 110
Invitae 1 33 16 14 0 64
Ambry Genetics 1 20 18 6 0 45
Center for Human Genetics, Inc 0 3 9 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 2 6 0 10
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 9 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 0 0 0 5
Blueprint Genetics 0 2 1 0 0 3
Department of Internal Medicine, University of Texas Health Science Center at Houston 1 1 1 0 0 3
OMIM 1 0 0 0 0 1
ISCA site 6 0 0 1 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 1 1

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.