ClinVar Miner

Variants studied for Intellectual developmental disorder with persistence of fetal hemoglobin

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
10 3 3 0 1 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
BCL11A 10 3 3 1 16

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 6 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 1
Mendelics 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 1 1

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