ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 8

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 not provided total
28 13 143 139 29 1 346

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 benign not provided total
ARHGEF9 28 13 141 139 29 1 344
AMER1, ARHGEF9 0 0 1 0 0 0 1
AMER1, ARHGEF9, ASB12, MTMR8, ZC4H2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 19 1 130 138 29 0 317
Revvity Omics, Revvity 1 0 4 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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