ClinVar Miner

Variants studied for Waardenburg syndrome type 2E

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
28 11 11 1 1 49

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLR2F, SOX10 27 11 11 1 1 48
ANKRD54, BAIAP2L2, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR659, PICK1, PLA2G6, POLR2F, SLC16A8, SOX10, TRIOBP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 18 2 0 0 0 20
Fulgent Genetics, Fulgent Genetics 0 1 3 1 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 2
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 2 0 0 0 0 2
3billion 1 1 0 0 0 2
Precision Medicine Center, Zhengzhou University 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Department of Pediatrics, The Seventh Affiliated Hospital of Guangxi Medical University (Wuzhou GongRen Hospital) 0 0 1 0 0 1

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