ClinVar Miner

Variants studied for Waardenburg syndrome type 1

Included ClinVar conditions (2):
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
19 25 7 3 0 53

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PAX3 19 24 7 3 52
MITF 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Center for Human Genetics, Inc 6 17 4 1 28
OMIM 11 0 0 0 11
Laboratory of Human Genetics,Universidade de São Paulo 0 7 0 2 9
Fulgent Genetics 0 0 2 0 2
Kasturba Medical College,Manipal University 1 1 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 1

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