ClinVar Miner

Variants studied for Waardenburg syndrome type 2A

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
44 29 269 160 39 1 520

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 benign not provided total
MITF 44 25 267 158 38 1 511
LOC107988030, MITF 0 0 2 1 1 0 4
POLR2F, SOX10 0 4 0 0 0 0 4
EDNRB 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 7 213 151 12 0 402
Illumina Laboratory Services, Illumina 0 0 56 8 36 0 100
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 13 1 0 0 0 0 14
OMIM 9 0 0 0 0 0 9
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 4 3 1 0 0 9
Fulgent Genetics, Fulgent Genetics 0 1 7 0 0 0 8
Laboratory of Human Genetics, Universidade de São Paulo 0 6 0 1 0 0 7
3billion 1 4 0 0 0 0 5
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 3 1 0 0 0 0 4
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 2 1 0 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 1 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1

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