ClinVar Miner

Variants studied for Waardenburg syndrome type 1

Included ClinVar conditions (3):
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
46 42 13 3 1 103

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PAX3 38 38 12 3 1 90
POLR2F, SOX10 5 2 0 0 0 7
LOC126806529, PAX3 1 1 1 0 0 3
ACSL3, AP1S3, CCDC140, CUL3, DOCK10, FAM124B, FARSB, KCNE4, MOGAT1, MRPL44, PAX3, SCG2, SERPINE2, SGPP2, WDFY1 1 0 0 0 0 1
EPHA4, PAX3 1 0 0 0 0 1
MITF 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 17 4 1 0 28
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 12 2 0 0 0 14
OMIM 11 0 0 0 0 11
Laboratory of Human Genetics, Universidade de São Paulo 0 7 0 2 0 9
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 5 2 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 1 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 3 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 4
King Laboratory, University of Washington 2 1 0 0 0 3
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 2 1 0 0 0 3
Mendelics 1 1 0 0 0 2
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
Precision Medicine Center, Zhengzhou University 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1

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