ClinVar Miner

Variants in gene CAMK2B

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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
9 13 325 481 69 844

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 7 5 283 450 63 790
Inborn genetic diseases 1 1 22 28 0 52
Intellectual disability, autosomal dominant 54 7 4 21 6 10 47
CAMK2B-related disorder 0 0 7 15 3 25
not specified 0 0 4 10 0 14
Intellectual disability 5 3 0 1 0 9
Autism spectrum disorder 0 0 1 1 0 2
Abnormality of the nervous system 1 0 0 0 0 1
Developmental disorder 0 0 1 0 0 1
Dystonic disorder; Global developmental delay; Apnea; Hyperventilation; Microcephaly; Agitation 0 1 0 0 0 1
Intellectual disability, autosomal dominant 40 0 0 1 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 218 434 63 718
GeneDx 6 2 66 0 4 78
Ambry Genetics 1 1 22 28 0 52
CeGaT Center for Human Genetics Tuebingen 2 1 10 33 3 49
PreventionGenetics, part of Exact Sciences 0 0 7 15 3 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 9 0 12
Genome-Nilou Lab 0 0 0 0 10 10
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 5 2 1 0 0 8
OMIM 7 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 0 5
Fulgent Genetics, Fulgent Genetics 0 0 0 4 0 4
3billion 2 0 2 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 1 0 3
New York Genome Center 0 0 3 0 0 3
Mendelics 0 0 1 1 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 1 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1

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