ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy 9

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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
102 25 168 40 17 346

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PCDH19 100 25 167 40 17 343
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 65 10 149 39 16 279
Mendelics 8 5 1 1 0 15
Genetic Services Laboratory,University of Chicago 2 1 10 0 0 13
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 0 1 0 0 10
OMIM 8 0 0 0 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 1 0 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 1 2 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 1 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 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
Blueprint Genetics 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1

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