ClinVar Miner

Variants studied for parenti-mignot neurodevelopmental syndrome

Included ClinVar conditions (1):
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
6 10 17 2 6 40

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CHD5 6 10 17 2 6 40

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 6 6
OMIM 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 1 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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