ClinVar Miner

Variants studied for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

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 not provided total
65 14 50 8 56 5 189

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 not provided total
AHDC1 64 14 50 8 56 5 188
AHDC1, LOC105376892, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 0 56 0 56
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 27 0 0 0 0 0 27
Revvity Omics, Revvity 0 0 18 2 0 0 20
Baylor Genetics 3 0 11 0 0 0 14
Laboratory of Human Genetics, Universidade de São Paulo 9 0 0 0 0 0 9
OMIM 5 0 0 0 0 0 5
Mendelics 2 0 1 2 0 0 5
3billion 1 4 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Harran University 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Genetics and Personalized Medicine, Danish Epilepsy Center 1 0 0 0 0 0 1
Centre for Human Genetics, University of Kinshasa 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 1

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