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 17 265 207 59 2 504

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 17 9 102 96 44 0 251
not specified 0 0 19 120 21 0 150
Mental retardation, autosomal dominant 1 16 2 113 13 2 1 145
Intellectual Disability, Dominant 0 0 49 2 0 0 51
History of neurodevelopmental disorder 0 0 11 18 5 0 34
See cases 5 3 4 1 0 0 13
Inborn genetic diseases 2 0 2 0 0 0 4
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
Schizophrenia 1 0 0 0 0 0 1
developmental delay with intractable seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 1 101 96 22 0 229
GeneDx 13 7 59 113 23 0 215
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 13 18 5 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 9 3 0 0 14
Athena Diagnostics Inc 0 0 3 5 3 0 11
Quest Diagnostics Nichols Institute San Juan Capistrano 3 1 5 0 0 0 9
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
ISCA site 1 0 1 4 1 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
OMIM 3 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 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
Department of Psychiatry,Nagoya University 1 0 0 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Liping Wei Laboratory,Peking University 1 0 0 0 0 0 1

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