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
38 14 235 146 47 2 412

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation, autosomal dominant 1 15 0 92 30 15 1 150
not specified 0 0 19 120 21 0 150
not provided 15 8 91 4 19 0 136
Intellectual Disability, Dominant 0 0 49 2 0 0 51
History of neurodevelopmental disorder 0 0 12 18 4 0 34
See cases 5 3 4 1 0 0 13
Inborn genetic diseases 2 0 2 0 0 0 4
Schizophrenia 3 0 0 0 0 0 3
MBD5 associated neurodevelopmental disorder 0 2 0 0 0 0 2
Seizures 0 0 2 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
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: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 12 6 59 106 18 0 201
Invitae 8 0 83 30 15 0 136
Illumina Clinical Services Laboratory,Illumina 0 0 49 2 0 0 51
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 39 3 6 0 49
Ambry Genetics 2 0 14 18 4 0 38
Genetic Services Laboratory, University of Chicago 0 0 9 15 0 0 24
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 19 0 19
Athena Diagnostics Inc 0 0 1 4 2 0 7
Fulgent Genetics 0 0 7 0 0 0 7
ISCA site 1 0 1 4 1 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 0 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, Inc. 4 0 0 0 0 0 4
GeneReviews 4 0 0 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 2 1 1 0 0 0 4
Department of Psychiatry,Nagoya University 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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 Cytogenomics Laboratory,Center 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
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
Liping Wei Laboratory,Peking University 1 0 0 0 0 0 1

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