ClinVar Miner

Variants studied for ACTH-independent Cushing syndrome

Included ClinVar conditions (9):
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 total
19 5 5 0 0 29

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ARMC5 7 0 0 7
GNAS 5 0 2 7
PDE11A 1 3 2 6
PRKAR1A 3 0 0 3
PRKACA 2 0 0 2
DSC2 0 0 1 1
FAM20A, PRKAR1A 0 1 0 1
LOC105373764, PDE11A 0 1 0 1
PDE8B 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 16 0 1 17
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 0 4
Fulgent Genetics 2 1 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1
GeneReviews 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 1

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