ClinVar Miner

Variants in gene DNMT3B

Minimum submission review status: Collection method:
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Gene type:
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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 total
19 7 194 74 28 293

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 14 2 109 10 20 153
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 4 2 86 43 15 150
not provided 1 3 13 29 1 47
not specified 0 0 0 0 6 6
Kabuki syndrome 1 0 0 1 0 0 1
Non-obstructive azoospermia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 3 108 64 16 196
Illumina Clinical Services Laboratory,Illumina 1 0 87 6 20 114
OMIM 12 0 0 0 0 12
GeneDx 1 2 6 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 2 5 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 6 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 2 0 5
Baylor Genetics 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Mendelics 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
Institute of Reproductive Genetics, University of Münster 0 0 1 0 0 1

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