ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 1

Coded as:
Minimum submission review status: Collection method:
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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
73 20 705 503 58 6 1336

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MBD5 67 17 700 503 58 6 1322
CIC 0 1 1 0 0 0 2
MBD5, ORC4 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
CDH15 0 0 1 0 0 0 1
EPC2, KIF5C, LOC126806366, LOC126806367, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC132088759, MBD5, ORC4 1 0 0 0 0 0 1
EPC2, MBD5 0 1 0 0 0 0 1
ITSN1 1 0 0 0 0 0 1
LOC126806366, LOC126806367, LOC129934887, LOC129934888, MBD5, ORC4 1 0 0 0 0 0 1
LOC126806367, MBD5 0 0 1 0 0 0 1
TAOK1 0 0 1 0 0 0 1
WDFY3 0 1 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 58 6 646 502 57 0 1269
Revvity Omics, Revvity 0 0 20 0 0 0 20
Fulgent Genetics, Fulgent Genetics 0 0 12 1 0 0 13
Baylor Genetics 1 0 9 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
New York Genome Center 0 0 5 1 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 0 5
Mendelics 0 0 3 2 0 0 5
GeneReviews 0 0 0 0 0 4 4
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
OMIM 4 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
3billion 1 0 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 1 0 3
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Elsea Lab, Dept of Molecular and Human Genetics, Baylor College of Medicine 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1

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