ClinVar Miner

Variants studied for Pheochromocytoma

Coded as:
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
33 40 323 65 129 1 577

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RET 7 0 78 24 51 0 160
TMEM127 7 19 93 15 26 0 152
MAX 0 1 37 9 19 0 63
KIF1B 0 0 36 2 6 0 44
LOC129934333, TMEM127 1 5 20 0 3 1 28
SDHC 0 0 21 2 2 0 25
SDHD 3 5 5 5 7 0 25
SDHB 6 4 9 0 4 0 23
LOC130055850, MAX 0 0 5 1 5 0 11
LOC107303340, VHL 3 4 2 0 0 0 9
LOC106736614, RET 0 0 5 1 2 0 8
SDHAF2 0 0 6 0 0 0 6
SDHA 0 0 2 2 0 0 4
VHL 3 1 0 0 0 0 4
LOC126861339, SDHD 1 1 0 1 1 0 3
KIF1B, LOC129388446 0 0 1 1 0 0 2
LOC100506321, MAX 1 0 1 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 2
ADRA2B, ASTL, DUSP2, GPAT2, STARD7, TMEM127 0 0 1 0 0 0 1
CFAP126, SDHC 0 0 0 0 1 0 1
CHURC1-FNTB, FNTB, LOC126861966, MAX 0 0 0 1 0 0 1
KIF1B, LOC126805614 0 0 1 0 0 0 1
KIF1B, LOC129929363 0 0 0 1 0 0 1
NF1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 232 55 113 0 400
Baylor Genetics 6 1 57 0 0 0 64
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 20 1 0 0 21
Familial Cancer Clinic, Veneto Institute of Oncology 0 19 0 0 0 0 19
Genome-Nilou Lab 0 0 0 0 15 0 15
OMIM 14 0 0 0 0 0 14
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 10
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 2 0 5 0 8
Fulgent Genetics, Fulgent Genetics 0 0 4 3 0 0 7
CSER _CC_NCGL, University of Washington 0 0 4 3 0 0 7
MGZ Medical Genetics Center 2 3 1 0 0 0 6
deCODE genetics, Amgen 0 4 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 0 0 3
Mendelics 1 0 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 2 0 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
3billion 0 0 2 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 0 1 0 1
Department of Medicine, University of Texas Health Science Center at San Antonio 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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