ClinVar Miner

Variants studied for Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

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
11 10 38 4 1 64

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
RORA 11 10 38 4 1 64

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
New York Genome Center 0 0 8 1 0 9
Revvity Omics, Revvity 0 0 7 0 0 7
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 1 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 2
3billion 0 1 0 1 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1

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