ClinVar Miner

Variants studied for Waardenburg syndrome type 2A

Coded as:
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
32 20 63 10 36 156

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MITF 32 16 62 8 35 148
POLR2F, SOX10 0 4 0 0 0 4
LOC107988030, MITF 0 0 1 1 1 3
EDNRB 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 56 8 36 100
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 13 1 0 0 0 14
OMIM 9 0 0 0 0 9
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 4 3 1 0 9
Laboratory of Human Genetics, Universidade de São Paulo 0 6 0 1 0 7
3billion 1 4 0 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 0 0 0 4
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 3 1 0 0 0 4
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 2 1 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Precision Medicine Center, Zhengzhou University 1 1 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.