ClinVar Miner

Variants studied for periventricular nodular heterotopia 8

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
8 5 5 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ARF1, LOC126806039 8 4 5 15
ARF1 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 7 3 0 10
OMIM 3 0 0 3
Baylor Genetics 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1
Revvity Omics, Revvity 0 1 0 1
MGZ Medical Genetics Center 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 1 1

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