ClinVar Miner

Variants studied for Cornelia de Lange syndrome 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
16 14 6 0 0 35

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
HDAC8 14 14 6 33
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 1
HDAC8, PHKA1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance total
Genetic Services Laboratory, University of Chicago 3 2 3 8
Baylor Miraca Genetics Laboratories, 3 3 1 7
OMIM 6 0 0 6
Invitae 1 2 2 5
Institute of Human Genetics,University of Goettingen 0 2 0 2
HudsonAlpha Institute for Biotechnology 1 1 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1
University of Washington Center for Mendelian Genomics,University of Washington 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 1

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