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:

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
74 34 72 10 58 5 242

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 73 34 72 10 58 5 241
AHDC1, LOC105376892, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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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 1 18 2 0 0 21
Baylor Genetics 3 0 11 0 0 0 14
Laboratory of Human Genetics, Universidade de São Paulo 11 2 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 0 1 9 0 0 0 10
3billion 3 5 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 5 1 0 0 8
Umrani?ye Training and Research Hospital 1 4 0 1 0 0 6
Mendelics 2 0 1 2 0 0 5
OMIM 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Variantyx, Inc. 3 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 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
Department of Medical Genetics, Oslo University Hospital 1 1 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre for Human Genetics, University of Kinshasa 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Harran University 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 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
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GeNE CliniK, Regional Hospital Limbe 0 0 1 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genetics and Personalized Medicine, Danish Epilepsy Center 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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