ClinVar Miner

Variants studied for Waardenburg syndrome

Included ClinVar conditions (17):
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 not provided total
81 66 142 84 8 1 375

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 not provided total
MITF 17 11 34 21 4 0 84
PAX3 26 26 14 14 1 0 80
EDN3 6 3 32 20 0 0 60
POLR2F, SOX10 16 20 12 10 2 0 60
EDNRB 6 2 27 16 1 1 51
SNAI2 1 0 17 0 0 0 18
TYR 8 4 2 0 0 0 14
CCDC140, LOC107980445, PAX3 0 0 3 2 0 0 5
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 0 0 1
CCDC140, PAX3 0 0 1 0 0 0 1
LOC107988030, MITF 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 121 79 8 0 209
Center for Human Genetics, Inc 13 36 10 3 0 0 62
OMIM 40 0 0 0 0 0 40
Fulgent Genetics,Fulgent Genetics 8 4 5 0 0 0 17
Laboratory of Human Genetics,Universidade de São Paulo 0 13 0 3 0 0 16
Kasturba Medical College,Manipal University 6 3 2 0 0 0 11
Mendelics 1 1 1 2 0 0 5
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 3
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 3 0 0 0 0 0 3
Invitae 1 0 1 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Institute for Human Genetics,University Clinic Freiburg 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 1

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