ClinVar Miner

Variants studied for Intellectual developmental disorder with dysmorphic facies and ptosis

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
28 14 34 2 1 78

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
BRPF1 28 14 33 2 1 77
RPL10L 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 10 0 0 0 0 10
Baylor Genetics 0 1 9 0 0 10
Revvity Omics, Revvity 2 0 7 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 7 0 0 9
New York Genome Center 0 0 5 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 0 0 4
Mendelics 3 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 2
3billion 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Robert's Program, Boston Children's Hospital 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1

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