ClinVar Miner

Variants in gene combination SNHG14, UBE3A

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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 not provided total
160 38 149 75 18 1 405

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Angelman syndrome 121 24 88 14 11 1 248
not provided 36 12 48 18 7 0 119
not specified 0 0 17 45 13 0 70
History of neurodevelopmental disorder 2 1 3 9 7 0 22
Inborn genetic diseases 8 1 5 1 0 0 15
See cases 2 0 2 0 0 0 4
Autistic disorder of childhood onset 0 0 1 0 0 0 1
Esophageal atresia; Pyloric stenosis 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 1 0 0 0 0 0 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 76 5 39 0 0 0 120
GeneDx 25 10 29 39 15 0 118
Invitae 19 3 43 24 11 0 100
Genetic Services Laboratory, University of Chicago 30 6 20 11 8 0 75
Ambry Genetics 9 2 8 10 7 0 36
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 2 16 0 10 0 33
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 5 3 0 0 14
Athena Diagnostics Inc 0 0 2 1 4 0 7
Division of Genomic Diagnostics,The 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
OMIM 4 0 0 0 0 0 4
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 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
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Raymond Lab,University of Cambridge 1 0 0 0 0 0 1

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