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
59 25 349 301 79 2 719

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation, autosomal dominant 1 32 6 228 166 40 1 466
not provided 18 12 110 61 27 0 217
not specified 0 0 19 120 22 0 150
History of neurodevelopmental disorder 0 0 10 18 6 0 34
See cases 5 3 4 1 0 0 13
Intellectual disability 3 0 4 2 0 0 9
Intellectual Disability, Dominant 0 0 7 0 0 0 7
Inborn genetic diseases 2 0 4 0 0 0 6
Schizophrenia 3 0 0 0 0 0 3
Seizures 0 0 2 1 0 0 3
MBD5 associated neurodevelopmental disorder 0 2 0 0 0 0 2
Abnormality of esophagus morphology 0 0 0 1 0 0 1
Autism spectrum disorder 1 0 0 0 0 0 1
Autistic disorder of childhood onset; Schizophrenia 1 0 0 0 0 0 1
Chromosome 2q23.1 deletion syndrome 0 0 0 0 0 1 1
Generalized tonic-clonic seizures 0 0 1 0 0 0 1
Global developmental delay; Delayed speech and language development 0 1 0 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: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 23 2 205 195 42 0 467
GeneDx 13 7 59 113 23 0 215
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 39 3 6 0 49
Ambry Genetics 2 0 14 18 6 0 40
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 17 8 0 0 28
Genetic Services Laboratory, University of Chicago 0 0 9 14 1 0 24
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 19 0 19
Athena Diagnostics Inc 0 0 3 6 5 0 14
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 6 0 0 0 11
Baylor Genetics 1 0 9 0 0 0 10
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Illumina Clinical Services Laboratory,Illumina 0 0 7 0 0 0 7
ISCA site 1 0 1 4 1 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 3 0 3 0 0 0 6
Mendelics 0 0 3 2 0 0 5
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 4 0 0 0 0 0 4
Department of Psychiatry,Nagoya University 4 0 0 0 0 0 4
OMIM 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
PreventionGenetics, PreventionGenetics 0 0 0 2 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 2 0 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
ISCA site 6 1 0 0 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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 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 Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 0 1 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

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