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
25 5 5 0 0 34

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
POLR2F, SOX10 24 5 5 33
ANKRD54, BAIAP2L2, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR659, PICK1, PLA2G6, POLR2F, SLC16A8, SOX10, TRIOBP 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 18 2 0 20
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 2
Kasturba Medical College, Manipal University 1 0 1 2
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 2 0 0 2
Precision Medicine Center,Zhengzhou University 2 0 0 2
Baylor Genetics 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 1 0 1
New York Genome Center 0 0 1 1

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