ClinVar Miner

Variants in gene combination SNHG14, UBE3A

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Minimum submission review status: Collection method:
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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
198 71 367 260 40 1 858

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Angelman syndrome 156 49 259 199 18 1 653
not provided 49 18 127 56 24 0 259
Inborn genetic diseases 11 4 23 22 7 0 67
not specified 0 0 21 37 13 0 66
UBE3A-related condition 4 1 7 9 2 0 23
See cases 2 1 5 0 0 0 8
Intellectual disability 3 1 1 1 0 0 6
Autism 0 0 1 0 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Seizure; Abnormal corpus callosum morphology; EEG abnormality; Poor speech 1 0 0 0 0 0 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 10 201 199 14 0 471
GeneDx 37 10 93 65 32 0 237
Baylor Genetics 78 5 41 0 0 0 124
Genetic Services Laboratory, University of Chicago 32 5 23 11 8 0 79
Ambry Genetics 11 4 23 22 7 0 67
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 8 4 14 10 11 0 47
CeGaT Center for Human Genetics Tuebingen 6 3 15 17 0 0 41
Eurofins Ntd Llc (ga) 5 2 16 0 10 0 33
PreventionGenetics, part of Exact Sciences 4 1 7 9 3 0 24
Revvity Omics, Revvity 1 2 7 0 0 0 10
OMIM 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 3 1 5 0 9
Mendelics 4 5 0 0 0 0 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 2 1 3 1 0 0 7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 0 2 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 2 1 1 1 0 0 5
3billion 2 1 1 1 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 1 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 3 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 2 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 1 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
ISCA site 1 0 0 2 0 0 0 2
ISCA site 4 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 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 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Raymond Lab, University of Cambridge 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1

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