ClinVar Miner

Variants studied for Waardenburg syndrome

Included ClinVar conditions (21):
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
154 114 366 177 69 2 844

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MITF 44 28 272 159 39 1 520
POLR2F, SOX10 49 38 32 8 10 0 133
PAX3 40 37 24 5 13 0 112
EDNRB 7 6 12 1 1 1 27
EDN3 6 3 8 2 1 0 18
LOC126806529, PAX3 1 1 5 1 1 0 9
CCDC140, LOC107980445, PAX3 0 0 4 0 2 0 6
KITLG 3 0 1 0 0 0 4
LOC107988030, MITF 0 0 2 1 1 0 4
LOC129391280, POLR2F, SOX10 0 0 2 0 1 0 3
ACSL3, AP1S3, CCDC140, CUL3, DOCK10, FAM124B, FARSB, KCNE4, MOGAT1, MRPL44, PAX3, SCG2, SERPINE2, SGPP2, WDFY1 1 0 0 0 0 0 1
ANKRD54, BAIAP2L2, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR659, PICK1, PLA2G6, POLR2F, SLC16A8, SOX10, TRIOBP 1 0 0 0 0 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, LOC121853043, LOC125446232, LOC129391280, LOC130067392, LOC130067393, LOC130067394, LOC130067395, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 0 0 1
CCDC140, PAX3 0 0 1 0 0 0 1
EDNRB, LOC107882129 0 1 1 0 0 0 1
EPHA4, PAX3 1 0 0 0 0 0 1
SNAI2 0 0 1 0 0 0 1
TMPRSS3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 7 213 151 12 0 402
Illumina Laboratory Services, Illumina 0 0 113 19 64 0 196
Center for Human Genetics, Inc, Center for Human Genetics, Inc 13 36 10 3 0 0 62
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 43 6 0 0 0 0 48
OMIM 42 0 1 0 0 0 43
Fulgent Genetics, Fulgent Genetics 1 2 17 1 2 0 23
Laboratory of Human Genetics, Universidade de São Paulo 0 13 0 3 0 0 16
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 5 3 0 0 0 16
3billion 2 8 1 0 0 0 11
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 8 2 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 4 1 1 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 5 2 0 0 0 0 7
King Laboratory, University of Washington 3 4 0 0 0 0 7
Precision Medicine Center, Zhengzhou University 5 1 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 4 0 0 0 6
Mendelics 1 1 1 2 0 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 3 1 0 0 0 5
Baylor Genetics 2 2 0 0 0 0 4
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 2 0 0 0 0 4
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 2 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
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
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Revvity Omics, Revvity 0 1 1 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 2 0 0 0 0 2
Institute for Human Genetics, University Medical Center Freiburg 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 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 National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Department of Pediatrics, The Seventh Affiliated Hospital of Guangxi Medical University (Wuzhou GongRen Hospital) 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1

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