ClinVar Miner

Variants studied for Cushing syndrome

Included ClinVar conditions (24):
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
375 140 955 190 32 6 1630

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TP53 160 77 513 93 12 0 806
MEN1 124 36 296 52 10 5 511
PRKAR1A 42 1 73 21 2 1 135
FAM20A, PRKAR1A 4 1 23 19 6 0 53
CHEK2 11 4 33 0 0 0 47
GNAS 11 1 3 0 1 0 16
TP53, WRAP53 3 1 5 5 1 0 15
RET 0 14 0 0 0 0 14
ARMC5 7 1 0 0 0 0 8
PDE11A 1 4 4 0 0 0 8
USP8 5 0 0 0 0 0 5
AIP 1 0 2 0 0 0 3
MYH8, MYHAS 1 0 2 0 0 0 3
PRKACA 2 0 0 0 0 0 2
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC106794092, LOC112533665, LOC116276454, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53 1 0 0 0 0 0 1
DSC2 0 0 1 0 0 0 1
GNAI2 1 0 0 0 0 0 1
PDE8B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 250 68 832 79 3 0 1232
Counsyl 5 12 53 44 5 0 119
Illumina Clinical Services Laboratory,Illumina 1 0 38 45 10 0 94
OMIM 88 0 1 0 0 0 89
Fulgent Genetics,Fulgent Genetics 14 3 42 0 0 0 59
Mendelics 12 6 32 4 3 0 57
ClinGen TP53 Variant Curation Expert Panel,ClinGen 14 9 5 9 6 0 43
GeneReviews 38 0 0 0 0 0 38
Integrated Genetics/Laboratory Corporation of America 8 14 1 1 0 4 28
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 14 9 1 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 1 3 2 5 0 18
Pathway Genomics 8 1 5 0 1 0 15
Database of Curated Mutations (DoCM) 0 14 0 0 0 0 14
Center for Human Genetics, Inc 4 3 1 1 0 0 9
Genetic Services Laboratory, University of Chicago 3 3 1 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 7 0 0 0 0 0 7
CSER _CC_NCGL, University of Washington 1 0 2 4 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 5 1 0 0 0 6
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 3 1 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 1 0 0 0 0 1

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