ClinVar Miner

Variants studied for Waardenburg syndrome type 4A

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
8 2 4 1 0 14

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
EDNRB 6 2 4 1 12
POLR2F, SOX10 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Center for Human Genetics, Inc,Center for Human Genetics, Inc 3 1 1 1 6
OMIM 3 0 0 0 3
Kasturba Medical College,Manipal University 1 0 1 0 2
Mendelics 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 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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