ClinVar Miner

Variants studied for intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Included ClinVar conditions (2):
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
21 12 10 4 0 46

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BCL11B 21 12 10 4 46

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 1 5 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 4 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 5
OMIM 4 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 3
3billion 0 0 0 3 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 2
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 1
Suma Genomics 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Pediatric Neurology, The Children’s Hospital, Zhejiang University School of Medicine 0 1 0 0 1

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