ClinVar Miner

Variants studied for Waardenburg syndrome type 2A

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
16 10 59 10 36 129

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MITF 16 6 58 8 35 121
POLR2F, SOX10 0 4 0 0 0 4
LOC107988030, MITF 0 0 1 1 1 3
EDNRB 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 56 8 36 100
OMIM 9 0 0 0 0 9
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 4 3 1 0 9
Laboratory of Human Genetics,Universidade de São Paulo 0 6 0 1 0 7
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 3
Kasturba Medical College,Manipal University 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1

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