ClinVar Miner

Variants studied for Wieacker-Wolff syndrome

Coded as:
Minimum submission review status: Collection method:
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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
17 9 9 0 0 1 34

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
ZC4H2 17 9 9 1 34

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 8 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 3
Undiagnosed Diseases Network, NIH 1 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 2
Baylor Genetics 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Mendelics 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 1 1
3billion, Medical Genetics 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1

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