ClinVar Miner

Variants studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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
102 33 417 105 101 2 752

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TMEM127 19 6 159 37 7 0 228
SDHAF2 5 3 117 26 13 0 161
SDHB 44 16 13 6 9 1 86
MAX 9 1 56 19 0 0 85
SDHA 0 0 14 10 43 0 67
SDHC 4 3 29 3 26 0 64
SDHD 16 4 22 2 2 1 46
LOC100506321, MAX 3 0 5 2 0 0 10
LOC110121224, TMEM127 2 0 2 0 0 0 4
MPZ, SDHC 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 38 9 329 83 10 0 469
Illumina Clinical Services Laboratory,Illumina 0 0 80 22 93 0 195
Section on Medical Neuroendocrinolgy,National Institutes of Health 59 13 8 0 0 0 80
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 8 9 0 0 0 0 17
GeneReviews 6 0 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 2 2 0 0 0 1 5
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.