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
168 44 184 92 20 1 471

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Angelman syndrome 127 28 120 35 11 1 310
not provided 38 13 52 21 9 0 131
not specified 0 0 18 45 13 0 71
History of neurodevelopmental disorder 2 1 3 9 7 0 22
Inborn genetic diseases 8 2 7 1 0 0 18
Intellectual disability 3 1 1 1 0 0 6
See cases 2 0 2 0 0 0 4
Autistic disorder of childhood onset 0 0 1 0 0 0 1
Global developmental delay; Expressive language delay; Seizures; Abnormality of the corpus callosum; EEG abnormality; Poor speech 1 0 0 0 0 0 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 6 74 43 11 0 159
Baylor Genetics 77 5 40 0 0 0 122
GeneDx 25 10 29 39 17 0 120
Genetic Services Laboratory, University of Chicago 31 5 20 11 8 0 75
Ambry Genetics 9 3 10 10 7 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 2 16 0 10 0 33
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 8 5 0 0 19
Athena Diagnostics Inc 0 0 2 1 5 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 2 1 3 1 0 0 7
Mendelics 1 5 0 0 0 0 6
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
OMIM 4 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 1 1 0 2
Fulgent Genetics,Fulgent Genetics 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Raymond Lab,University of Cambridge 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 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
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1

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