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
58 4 87 55 17 1 2 205

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 38 1 68 40 6 0 0 152
not provided 20 2 9 2 9 0 0 42
Hereditary cancer-predisposing syndrome 0 0 6 14 2 0 0 22
Carney complex 2 0 5 8 1 0 1 17
not specified 0 0 3 8 5 0 1 15
Acrodysostosis 0 0 4 8 1 0 0 13
Pigmented nodular adrenocortical disease, primary, 1 3 0 0 0 0 0 0 3
Acrodysostosis 1 with or without hormone resistance 0 1 0 0 0 0 0 1
Adrenocortical tumor, somatic 1 0 0 0 0 0 0 1
Atrial myxoma, familial 1 0 0 0 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 10 1 68 40 6 0 0 125
GeneDx 20 2 1 6 6 0 0 35
GeneReviews 27 0 0 0 0 0 0 27
Ambry Genetics 0 0 6 14 2 0 0 22
Integrated Genetics/Laboratory Corporation of America 0 0 9 4 6 0 0 19
OMIM 14 0 0 0 0 0 0 14
Illumina Clinical Services Laboratory,Illumina 0 0 4 8 1 0 0 13
PreventionGenetics 0 0 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 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 Medical Center 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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