ClinVar Miner

Variants studied for Waardenburg syndrome type 2

Included ClinVar conditions (7):
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
24 17 63 11 36 149

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MITF 18 10 59 9 35 129
POLR2F, SOX10 5 7 3 0 0 15
LOC107988030, MITF 0 0 1 1 1 3
EDNRB 0 0 0 1 0 1
SNAI2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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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 10 0 0 0 0 10
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 4 3 1 0 9
Invitae 2 1 1 1 2 7
Laboratory of Human Genetics,Universidade de São Paulo 0 6 0 1 0 7
Kasturba Medical College,Manipal University 3 1 1 0 0 5
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 3
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Institute for Human Genetics,University Clinic Freiburg 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 1

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