ClinVar Miner

Variants studied for catecholamine-producing tumor

Included ClinVar conditions (30):
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
465 182 1826 654 121 5 3107

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHA 37 19 452 184 19 0 686
SDHB 102 37 216 48 9 2 390
LOC107303340, VHL 100 36 172 56 13 0 361
RET 55 19 174 73 12 2 301
VHL 76 25 160 48 7 0 299
SDHC 14 10 156 41 18 0 234
SDHD 50 12 133 33 8 1 228
TMEM127 11 21 135 58 10 0 222
KIF1B 1 0 91 52 8 0 152
SDHAF2 4 2 74 21 6 0 105
MAX 6 1 50 36 7 0 100
LOC100506321, MAX 3 0 3 2 0 0 8
LOC106736614, RET 0 0 4 1 1 0 6
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 2 0 2 0 0 0 4
LOC110121224, TMEM127 2 0 2 0 0 0 4
MPZ, SDHC 0 0 0 0 2 0 2
PADI2, SDHB 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LOC101928372, LOC112543491, LY9, MIR5187, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 1
CFAP126, SDHC 0 0 0 0 1 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 0 0 1
ZMYND11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 236 61 1298 358 48 0 2000
Illumina Clinical Services Laboratory,Illumina 0 0 362 235 62 0 659
Counsyl 10 9 170 71 9 0 269
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 121 35 35 7 6 0 204
OMIM 84 0 0 0 0 0 84
Section on Medical Neuroendocrinolgy,National Institutes of Health 59 13 8 0 0 0 80
Integrated Genetics/Laboratory Corporation of America 40 14 3 2 3 1 63
Fulgent Genetics,Fulgent Genetics 10 2 48 0 0 0 60
Mendelics 1 0 43 2 2 0 48
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 22 13 0 0 0 0 35
Research and Development, ARUP Laboratories 31 0 0 0 0 0 31
Center for Human Genetics, Inc 23 2 3 0 0 0 28
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 19
CSER_CC_NCGL; University of Washington Medical Center 0 0 8 6 0 0 14
Database of Curated Mutations (DoCM) 0 14 0 0 0 0 14
GeneReviews 10 0 0 0 0 0 10
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 10
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 6 1 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 5 0 2 0 7
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 1 0 0 0 0 0 1
PreventionGenetics 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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