ClinVar Miner

Variants in gene PRKG1

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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 99 137 63 3 286

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic uncertain significance likely benign benign not provided total
Aortic aneurysm, familial thoracic 8 1 71 61 20 1 149
not provided 1 21 55 39 0 116
Cardiovascular phenotype 1 20 18 6 0 45
not specified 0 0 32 12 0 44
Connective tissue disease 0 3 9 0 0 12
Familial thoracic aortic aneurysm and aortic dissection 0 2 1 0 1 4
See cases 0 0 1 1 0 2
Gestational diabetes mellitus uncontrolled 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 1 69 73 19 0 162
GeneDx 1 11 55 43 0 110
Ambry Genetics 1 20 18 6 0 45
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 6 8 0 16
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 3 9 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 9 2 0 0 11
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 9 0 9
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
GenomeConnect, ClinGen 0 0 0 0 2 2
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 1

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