ClinVar Miner

Variants in gene MBD5

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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
95 38 819 614 115 11 1506

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, autosomal dominant 1 62 14 606 468 56 6 1186
not provided 23 16 229 154 56 0 447
not specified 4 0 22 84 25 0 126
Inborn genetic diseases 5 0 47 58 14 0 124
MBD5-related condition 0 0 15 22 3 0 40
See cases 1 3 4 4 0 1 13
Intellectual disability 3 0 4 2 0 1 10
Intellectual Disability, Dominant 0 0 7 0 0 0 7
MBD5 associated neurodevelopmental disorder 0 3 0 0 0 1 4
Seizure 0 0 2 1 0 0 3
Autism spectrum disorder 2 0 0 0 0 0 2
Schizophrenia 2 0 0 0 0 0 2
Abnormal esophagus morphology 0 0 0 1 0 0 1
Autism; Schizophrenia 1 0 0 0 0 0 1
Autistic behavior 0 0 0 1 0 0 1
Bilateral tonic-clonic seizure 0 0 1 0 0 0 1
Chromosome 2q23.1 deletion syndrome 0 0 0 0 0 1 1
Complex neurodevelopmental disorder 0 0 0 0 0 1 1
Global developmental delay; Delayed speech and language development 0 1 0 0 0 0 1
Hypotonia 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
developmental delay with intractable seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 52 5 557 472 56 0 1142
GeneDx 16 8 123 173 48 0 368
Ambry Genetics 5 0 47 58 14 0 124
CeGaT Center for Human Genetics Tuebingen 2 6 43 47 7 0 105
Eurofins Ntd Llc (ga) 1 0 39 3 6 0 49
PreventionGenetics, part of Exact Sciences 0 0 15 23 3 0 41
Genetic Services Laboratory, University of Chicago 0 0 11 19 1 0 31
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 17 0 0 0 22
Revvity Omics, Revvity 0 0 20 0 0 0 20
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 19 0 19
Athena Diagnostics Inc 0 0 4 6 5 0 15
Fulgent Genetics, Fulgent Genetics 0 0 10 1 0 0 11
Baylor Genetics 1 0 9 0 0 0 10
Mendelics 0 0 5 2 2 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 6 1 0 0 8
Illumina Laboratory Services, Illumina 0 0 7 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 3 0 0 7
Diagnostic Laboratory, Strasbourg University Hospital 3 0 3 0 0 0 6
New York Genome Center 0 0 5 1 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 4 0 0 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 4 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
ISCA site 1 0 1 2 1 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 1 1 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 3 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
Department of Psychiatry, Nagoya University 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 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
ISCA Site 6 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 0 1 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
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 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
Liping Wei Laboratory, Peking University 1 0 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Department of Laboratory Medicine, 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
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1

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