ClinVar Miner

Variants studied for Waardenburg-Shah syndrome

Included ClinVar conditions (5):
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
26 18 5 1 0 1 49

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
POLR2F, SOX10 13 13 2 0 0 28
EDNRB 6 2 3 1 1 12
EDN3 6 3 0 0 0 8
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1F0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Center for Human Genetics, Inc 6 14 3 1 0 24
OMIM 16 0 0 0 0 16
Kasturba Medical College,Manipal University 2 1 1 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 1 0 0 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 1

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