ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 1

Coded as:
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
81 29 760 536 58 6 1444

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MBD5 75 26 754 536 58 6 1429
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
GRIA1 0 0 1 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: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 64 6 708 531 57 0 1366
Fulgent Genetics, Fulgent Genetics 0 0 12 1 0 0 13
Baylor Genetics 1 0 9 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 2 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 7
3billion 1 3 2 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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 0 0 0 5
Mendelics 0 0 3 2 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 2 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 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
CENTOGENE GmbH and LLC - Guiding Precision Medicine 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
Institute of Human Genetics Munich, TUM University Hospital 1 2 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
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
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
Genetics Department, Catlab 0 0 1 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 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 for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 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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