ClinVar Miner

Variants studied for Hereditary pheochromocytoma-paraganglioma

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
169 61 1084 594 111 9 2000

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TMEM127 35 9 291 178 7 0 520
SDHAF2 19 11 276 143 20 0 458
MAX 14 2 131 109 1 1 257
SDHB 51 24 98 28 9 1 204
SDHC 6 9 73 24 26 0 135
LOC129934333, TMEM127 18 0 76 33 1 0 128
SDHD 12 5 72 16 2 5 107
SDHA 1 1 14 10 43 1 70
LOC100506321, MAX 3 0 27 28 0 0 58
LOC130055850, MAX 3 0 10 17 0 0 30
LOC126861339, SDHD 1 0 7 6 0 1 14
LOC129929542, SDHB 2 0 6 2 1 0 11
LOC110121224, LOC129934333, TMEM127 2 0 2 0 0 0 4
DAGLA, LRRC10B, MYRF, PPP1R32, SDHAF2, SYT7 1 0 0 0 0 0 1
LOC100506321, LOC130055850, MAX 1 0 0 0 0 0 1
LOC129929541, SDHB 0 0 1 0 0 0 1
MPZ, SDHC 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 96 16 788 503 18 0 1421
All of Us Research Program, National Institutes of Health 23 14 257 79 2 0 375
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 20 7 0 0 0 1 28
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 16 0 0 0 0 27
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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