ClinVar Miner

Variants studied for Waardenburg syndrome

Included ClinVar conditions (16):
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
86 64 139 83 8 1 376

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 19 10 33 21 4 0 85
PAX3 25 25 13 14 1 0 77
POLR2F, SOX10 17 20 12 10 2 0 61
EDN3 6 3 32 19 0 0 59
EDNRB 7 2 26 16 1 1 52
SNAI2 1 0 17 0 0 0 18
TYR 8 4 2 0 0 0 14
CCDC140, LOC107980445, PAX3 1 0 3 2 0 0 6
LOC107988030, MITF 1 0 0 1 0 0 2
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1F0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 0 0 1
CCDC140, PAX3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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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 8 4 5 0 0 0 17
Laboratory of Human Genetics,Universidade de São Paulo 0 13 0 3 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 13 2 0 0 0 0 15
Kasturba Medical College,Manipal University 6 3 2 0 0 0 11
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 Miraca Genetics Laboratories, 0 1 0 0 0 0 1
Institute for Human Genetics,University Clinic Freiburg 0 1 0 0 0 0 1
Invitae 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 of Prof. Karen Avraham,Tel Aviv University 1 0 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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

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