ClinVar Miner

Variants studied for Waardenburg syndrome

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 total
1 5 58 11 28 103

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLR2F, SOX10 0 1 20 7 10 38
PAX3 0 1 13 2 13 29
MITF 1 2 5 1 1 10
CCDC140, LOC107980445, PAX3 0 0 4 0 2 6
LOC126806529, PAX3 0 0 4 1 1 6
EDN3 0 0 5 0 0 5
EDNRB 0 0 3 0 0 3
LOC129391280, POLR2F, SOX10 0 0 2 0 1 3
CCDC140, PAX3 0 0 1 0 0 1
EDNRB, LOC107882129 0 1 0 0 0 1
TMPRSS3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 57 11 28 96
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 3 1 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 1

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