ClinVar Miner

Variants in gene SETD2

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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 drug response not provided total
17 7 273 176 72 1 45 549

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Luscan-lumish syndrome 10 1 252 144 60 0 0 461
not provided 5 3 15 42 15 0 0 79
not specified 0 0 4 6 4 0 45 56
Inborn genetic diseases 2 0 6 0 0 0 0 8
Acute megakaryoblastic leukemia without down syndrome 0 2 0 0 0 0 0 2
Autistic behavior; Seizures; Intellectual disability 0 0 1 0 0 0 0 1
Autistic disorder of childhood onset; Intellectual disability 0 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia 0 1 0 0 0 0 0 1
Corpus callosum, agenesis of; Cerebellar vermis hypoplasia; Luscan-lumish syndrome 1 0 0 0 0 0 0 1
Dandy-Walker syndrome 0 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 0 1
SETD2-related disorder 0 1 0 0 0 0 0 1
Seizures 0 0 1 0 0 0 0 1
Ventriculomegaly; Luscan-lumish syndrome; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 0 0 0 0 1
WEE1 Inhibitor response 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 4 0 231 167 68 0 0 470
ITMI 0 0 0 0 0 0 45 45
Athena Diagnostics Inc 0 0 6 2 10 0 0 18
GeneDx 4 2 7 2 0 0 0 15
Baylor Genetics 1 0 12 0 0 0 0 13
Ambry Genetics 2 0 6 0 0 0 0 8
New York Genome Center 0 0 6 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 2 0 0 0 5
OMIM 4 0 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 1 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1

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