ClinVar Miner

Variants in gene PRKAR1A

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Minimum submission review status: Collection method:
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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 other not provided total
82 22 455 468 63 1 8 1031

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Carney complex, type 1 56 9 371 377 31 0 5 835
Hereditary cancer-predisposing syndrome 4 4 170 184 12 0 0 368
not provided 29 9 30 21 30 0 0 115
Acrodysostosis 1 with or without hormone resistance 5 2 60 5 17 0 0 89
not specified 0 0 21 27 11 0 1 59
Carney complex 2 0 4 8 7 0 1 22
PRKAR1A-related condition 2 0 3 14 0 0 0 19
Acrodysostosis 0 0 3 8 7 0 0 18
Carney complex, type 1; Pigmented nodular adrenocortical disease, primary, 1; Familial atrial myxoma; Acrodysostosis 1 with or without hormone resistance 1 1 9 4 0 0 0 15
Familial atrial myxoma 1 0 0 2 6 0 0 9
Pigmented nodular adrenocortical disease, primary, 1 3 0 0 0 0 0 0 3
Adrenocortical tumor, somatic 1 0 0 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 0 0 0 1
CARNEY COMPLEX, TYPE I 1 0 0 0 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1
Pigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1 with or without hormone resistance; Carney complex 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 48 8 325 374 18 0 0 773
Ambry Genetics 4 4 168 184 5 0 0 365
GeneDx 29 7 19 17 23 0 0 95
Illumina Laboratory Services, Illumina 1 0 50 13 22 0 0 84
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 24 23 11 0 0 59
PreventionGenetics, part of Exact Sciences 2 0 3 14 3 0 0 22
Sema4, Sema4 0 0 6 7 8 0 0 21
OMIM 17 0 0 0 0 0 0 17
Baylor Genetics 1 0 14 0 0 0 0 15
Fulgent Genetics, Fulgent Genetics 1 1 9 4 0 0 0 15
CeGaT Center for Human Genetics Tuebingen 0 1 0 7 3 0 0 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 6 0 0 8
GeneReviews 1 0 0 0 0 0 5 6
Genetic Services Laboratory, University of Chicago 0 0 0 3 1 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 0 4
Mendelics 0 0 2 1 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 0 1 0 0 3
Blueprint Genetics 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 1 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 1
ITMI 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1

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