ClinVar Miner

Variants studied for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (4):
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
62 25 117 16 5 224

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PCDH19 51 20 84 12 4 170
ARHGEF9 8 5 25 4 0 42
ATP6AP2 2 0 8 0 1 11
PCDH19, SRPX2, TNMD, TSPAN6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 8 100 11 4 151
Mendelics 9 5 1 1 0 16
Genetic Services Laboratory, University of Chicago 2 1 10 0 0 13
OMIM 12 0 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 0 0 0 8
Center for Human Genetics, Inc 1 1 1 2 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 2 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 1 4
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1

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