ClinVar Miner

Variants studied for Waardenburg syndrome type 2

Included ClinVar conditions (9):
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
74 42 286 161 40 1 577

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 not provided total
MITF 46 27 271 158 38 1 517
POLR2F, SOX10 27 15 12 1 1 0 53
LOC107988030, MITF 0 0 2 1 1 0 4
ANKRD54, BAIAP2L2, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR659, PICK1, PLA2G6, POLR2F, SLC16A8, SOX10, TRIOBP 1 0 0 0 0 0 1
EDNRB 0 0 0 1 0 0 1
SNAI2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 19 7 214 151 12 0 403
Illumina Laboratory Services, Illumina 0 0 56 8 36 0 100
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 31 3 0 0 0 0 34
Fulgent Genetics, Fulgent Genetics 0 2 10 1 0 0 13
OMIM 9 0 1 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 4 3 1 0 0 9
Laboratory of Human Genetics, Universidade de São Paulo 0 6 0 1 0 0 7
3billion 2 5 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 1 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 4 0 0 0 5
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 4 1 0 0 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 0 0 0 0 4
Precision Medicine Center, Zhengzhou University 3 1 0 0 0 0 4
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 2 1 0 0 0 4
Baylor Genetics 0 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
King Laboratory, University of Washington 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 2 0 0 0 0 0 2
Institute for Human Genetics, University Medical Center Freiburg 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 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
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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