ClinVar Miner

Variants studied for Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

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 not provided total
14 22 42 5 0 7 82

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 not provided total
CDK13 12 21 38 5 7 77
CDK13, LOC129998292 2 1 3 0 0 4
CDK13, LOC129998293 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Baylor Genetics 1 3 12 0 0 16
Revvity Omics, Revvity 1 1 9 1 0 12
OMIM 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 2 0 0 4 0 6
3billion 5 0 1 0 0 6
GeneReviews 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 5
MGZ Medical Genetics Center 1 0 3 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 4
New York Genome Center 0 0 4 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Mendelics 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1

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