ClinVar Miner

Variants studied for Waardenburg syndrome type 4C

Included ClinVar conditions (2):
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
13 14 2 0 0 29

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 12 14 2 28
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 12 2 16
OMIM 8 0 0 8
Fulgent Genetics,Fulgent Genetics 0 0 1 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 1
Kasturba Medical College,Manipal University 1 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 1 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 1

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