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
25 6 19 3 0 2 52

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 not provided total
AHDC1 25 6 19 3 2 52

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Baylor Genetics 2 0 11 0 0 13
OMIM 5 0 0 0 0 5
Mendelics 1 0 1 2 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 4
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Clinical Genetics Laboratory,Harran University 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Genetics and Personalized Medicine,Danish Epilepsy Center 1 0 0 0 0 1
Centre for Human Genetics, University of Kinshasa 1 0 0 0 0 1

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