ClinVar Miner

Variants in gene PRKAR1A

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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 other not provided total
70 8 174 121 22 1 2 366

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Carney complex, type 1 54 3 150 89 11 0 0 297
Hereditary cancer-predisposing syndrome 0 0 34 43 3 0 0 80
not provided 21 4 8 16 9 0 0 57
not specified 0 0 9 18 8 0 1 33
Acrodysostosis 1 with or without hormone resistance 0 1 8 4 7 0 0 20
Carney complex 3 0 2 1 1 0 1 8
Acrodysostosis 0 0 1 1 1 0 0 3
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
Familial atrial myxoma 1 0 0 0 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 28 2 143 97 6 0 0 276
Ambry Genetics 0 0 34 43 3 0 0 80
GeneDx 21 3 1 6 6 0 0 37
Integrated Genetics/Laboratory Corporation of America 1 0 13 13 9 0 0 36
GeneReviews 27 0 0 0 0 0 0 27
Illumina Clinical Services Laboratory,Illumina 0 0 9 5 10 0 0 22
OMIM 14 0 0 0 0 0 0 14
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 0 2
Mendelics 0 0 1 1 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 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
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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1

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