ClinVar Miner

Variants in gene DNMT3B

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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
31 25 300 467 37 2 798

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 19 14 186 446 31 0 696
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 13 9 80 8 16 0 121
not provided 0 5 23 19 16 2 61
Inborn genetic diseases 0 0 57 3 0 0 60
DNMT3B-related disorder 0 0 5 18 3 0 26
not specified 0 0 5 5 5 0 15
Immunodeficiency-centromeric instability-facial anomalies syndrome 1; Facioscapulohumeral muscular dystrophy 4, digenic 1 1 5 1 0 0 8
Facioscapulohumeral muscular dystrophy 4, digenic 1 0 0 0 0 0 1
Kabuki syndrome 1 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 19 14 187 446 31 0 697
Illumina Laboratory Services, Illumina 1 0 72 6 16 0 95
Ambry Genetics 0 0 57 3 0 0 60
PreventionGenetics, part of Exact Sciences 0 0 5 18 3 0 26
CeGaT Center for Human Genetics Tuebingen 0 0 5 14 1 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 3 3 14 0 20
GeneDx 0 4 9 0 3 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 5 3 0 0 15
OMIM 13 0 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 4 5 0 10
Fulgent Genetics, Fulgent Genetics 1 1 3 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Mendelics 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1

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