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
52 20 84 12 4 171

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 51 20 84 12 4 170
PCDH19, SRPX2, TNMD, TSPAN6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 26 7 68 7 3 111
Mendelics 8 5 1 1 0 15
Genetic Services Laboratory, University of Chicago 2 1 10 0 0 13
OMIM 8 0 0 0 0 8
Center for Human Genetics, Inc 1 1 1 2 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 1 0 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
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
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

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