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
37 11 79 43 23 190

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 29 8 58 31 16 139
ARHGEF9 5 3 13 11 1 33
ATP6AP2 2 0 8 1 6 17
PCDH19, SRPX2, TNMD, TSPAN6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 18 4 65 41 22 150
Genetic Services Laboratory, University of Chicago 2 1 10 0 0 13
OMIM 12 0 0 0 0 12
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 1 0 2 0 0 3
Baylor Miraca Genetics Laboratories, 1 0 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 1

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