ClinVar Miner

Variants studied for Neurodevelopmental disorder with or without autism or seizures

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
7 11 10 0 0 27

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CUL3 7 11 10 27

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance total
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 4
MGZ Medical Genetics Center 1 2 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 3 3
Baylor Genetics 0 2 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 1
New York Genome Center 0 0 1 1
3billion, Medical Genetics 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 1

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