ClinVar Miner

Variants studied for Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

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
18 3 9 1 0 29

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PRUNE1 15 3 9 1 26
DYNC1I2 2 0 0 0 2
BNIPL, PRUNE1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 10 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 5
Baylor Genetics 1 0 3 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 1 0 4
Centogene AG - the Rare Disease Company 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 1
3billion, Medical Genetics 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Department of Medical Genetics, Tarbiat Modares University 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 1

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