ClinVar Miner

Variants in gene SETD2

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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 drug response not provided total
33 16 535 382 155 1 51 1053

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Luscan-Lumish syndrome 20 3 331 274 114 0 4 721
not provided 10 7 151 80 69 0 2 303
Inborn genetic diseases 4 0 54 19 0 0 0 77
not specified 0 0 17 10 11 0 45 77
SETD2-related condition 1 2 21 39 8 0 0 71
Luscan-Lumish syndrome; Rabin-Pappas syndrome; Intellectual developmental disorder, autosomal dominant 70 0 0 5 1 0 0 0 6
Autism spectrum disorder 0 1 0 4 0 0 0 5
Intellectual developmental disorder, autosomal dominant 70 1 0 2 0 0 0 0 3
See cases 0 1 2 0 0 0 0 3
Acute megakaryoblastic leukemia without down syndrome 0 2 0 0 0 0 0 2
Neurodevelopmental disorder 0 0 2 0 0 0 0 2
Autism; Intellectual disability 0 0 1 0 0 0 0 1
Autistic behavior 0 0 1 0 0 0 0 1
Autistic behavior; Seizure; 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
Developmental disorder 0 0 0 1 0 0 0 1
Intellectual disability 1 0 0 0 0 0 0 1
Rabin-Pappas syndrome 1 0 0 0 0 0 0 1
SETD2-related disorder 0 1 0 0 0 0 0 1
Seizure 0 0 1 0 0 0 0 1
Teratoma 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: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 8 0 279 282 105 0 0 674
GeneDx 9 3 93 32 59 0 0 196
Ambry Genetics 4 0 54 19 0 0 0 77
PreventionGenetics, part of Exact Sciences 1 2 21 39 8 0 0 71
CeGaT Center for Human Genetics Tuebingen 0 2 22 35 7 0 0 66
Genome-Nilou Lab 0 0 23 4 30 0 0 57
ITMI 0 0 0 0 0 0 45 45
New York Genome Center 0 0 26 0 0 0 0 26
Revvity Omics, Revvity 0 2 23 0 0 0 0 25
Genetic Services Laboratory, University of Chicago 0 0 7 8 8 0 0 23
Athena Diagnostics Inc 0 0 6 2 10 0 0 18
Baylor Genetics 2 0 12 0 0 0 0 14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 8 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 5 1 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 0 0 0 0 7
OMIM 6 0 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 2 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 1 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 5 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 2 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 1 0 0 4
MGZ Medical Genetics Center 0 0 3 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 0 2 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 2 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 2
3billion 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 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
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 0 1
Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 0 1

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