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
87 24 151 58 9 2 327

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TMEM127 11 2 68 23 7 0 111
SDHAF2 4 1 43 16 2 0 66
SDHB 43 16 3 0 0 1 60
MAX 5 0 28 17 0 0 50
SDHD 16 3 5 0 0 1 24
SDHC 4 2 2 0 0 0 8
LOC100506321, MAX 2 0 1 2 0 0 5
LOC110121224, TMEM127 2 0 1 0 0 0 3

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 2 141 58 9 0 234
Section on Medical Neuroendocrinolgy,National Institutes of Health 59 13 8 0 0 0 80
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 8 0 0 0 0 15
GeneReviews 6 0 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1 2
CSER_CC_NCGL; University of Washington Medical Center 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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