ClinVar Miner

Variants studied for Hereditary pheochromocytoma and paraganglioma

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
225 91 1383 762 133 8 2541

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TMEM127 48 8 340 213 7 0 614
SDHAF2 25 16 345 179 23 0 566
MAX 27 4 189 159 2 1 380
SDHB 59 34 163 56 19 0 314
SDHC 10 13 108 43 29 0 197
SDHD 16 10 98 35 7 5 162
LOC129934333, TMEM127 24 1 87 37 0 0 149
SDHA 1 2 16 10 43 1 72
LOC130055850, MAX 5 1 12 19 0 0 37
LOC126861339, SDHD 3 0 11 8 1 1 23
LOC129929542, SDHB 2 0 8 3 1 0 13
LOC110121224, LOC129934333, TMEM127 2 0 2 0 0 0 4
DNMT3A 1 2 0 0 0 0 3
CIAO1, LOC129934333, TMEM127 0 0 0 0 1 0 1
DAGLA, LRRC10B, MYRF, SAXO4, SDHAF2, SYT7 1 0 0 0 0 0 1
DLST 0 0 1 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 1
LOC129929541, SDHB 0 0 1 0 0 0 1
MDH2 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 129 17 940 596 19 0 1701
All of Us Research Program, National Institutes of Health 34 21 315 102 2 0 474
Color Diagnostics, LLC DBA Color Health 28 21 198 96 30 0 373
Illumina Laboratory Services, Illumina 0 0 80 22 93 0 195
Section on Medical Neuroendocrinolgy, National Institutes of Health 59 13 8 0 0 0 80
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 33 9 0 0 0 0 42
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 16 0 0 0 0 27
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 6 7 2 1 2 0 18
Department of Pathology and Laboratory Medicine, Sinai Health System 2 3 5 2 4 0 16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 7 0 0 0 8
GeneReviews 0 0 0 0 0 6 6
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 0 3
Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO) 1 2 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Pathology, Peter Maccallum Cancer Centre 0 1 1 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1

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