ClinVar Miner

Variants studied for Waardenburg syndrome type 4C

Coded as:
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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
19 19 4 1 1 44

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 18 19 4 1 1 43
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 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 12 2 0 0 16
OMIM 8 0 0 0 0 8
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 1

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