ClinVar Miner

Variants studied for adrenal/paraganglial tumor

Included ClinVar conditions (7):
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
210 132 551 238 40 6 1144

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEN1 197 51 544 238 40 6 1044
TP53 6 40 4 0 0 0 49
RET 0 14 0 0 0 0 14
CTNNB1 0 11 0 0 0 0 11
CLCN2 7 0 2 0 0 0 9
NRAS 0 5 0 0 0 0 5
PIK3CA 0 4 0 0 0 0 4
BRAF 0 3 0 0 0 0 3
GNAS 0 3 0 0 0 0 3
CHEK2 0 0 1 0 0 0 1
H3-3A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 179 30 511 224 29 0 973
Database of Curated Mutations (DoCM) 0 79 0 0 0 0 79
Illumina Clinical Services Laboratory,Illumina 0 0 22 3 20 0 45
OMIM 33 0 0 0 0 0 33
Mendelics 3 2 13 3 2 0 23
Integrated Genetics/Laboratory Corporation of America 4 12 1 1 0 4 22
Counsyl 0 2 6 9 2 0 19
Fulgent Genetics,Fulgent Genetics 5 1 8 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 1 2 2 1 0 13
Center for Human Genetics, Inc,Center for Human Genetics, Inc 4 3 1 1 0 0 9
Ute Scholl Laboratory,Heinrich Heine University Duesseldorf 5 0 0 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 1 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Nilou-Genome Lab 1 0 0 0 0 0 1
Liaoning Provincial Key Laboratory of Endocrine Diseases,The First Hospital of China Medical University 1 0 0 0 0 0 1

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