ClinVar Miner

Variants studied for Epileptic encephalopathy, early infantile, 31

Coded as:
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
9 8 43 41 25 126

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 total
DNM1 8 7 39 38 23 115
CIZ1, DNM1 1 1 3 3 2 10
DNM1, MIR199B, MIR3154 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 4 40 41 25 112
OMIM 5 0 0 0 0 5
Mendelics 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 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
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1

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