ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 1

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
68 18 614 468 57 6 1204

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 62 15 609 468 57 6 1190
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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 53 5 557 468 56 0 1139
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
New York Genome Center 0 0 5 1 0 0 6
Mendelics 0 0 3 2 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 0 5
OMIM 4 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
MGZ Medical Genetics Center 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
Elsea Lab, Dept of Molecular and Human Genetics, Baylor College of Medicine 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 3
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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