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
147 28 130 57 14 1 344

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Angelman syndrome 116 16 70 7 11 1 211
not provided 26 10 45 1 2 0 83
not specified 0 0 17 45 13 0 70
History of neurodevelopmental disorder 2 0 5 8 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
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Miraca Genetics Laboratories, 76 5 39 0 0 0 120
GeneDx 21 8 29 35 11 0 104
Genetic Services Laboratory, University of Chicago 30 6 20 11 8 0 75
Invitae 8 2 24 7 11 0 52
Ambry Genetics 9 1 10 9 7 0 36
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 2 16 0 10 0 33
Division of Genomic Diagnostics,The 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
OMIM 4 0 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 1 3 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 0 3
PreventionGenetics 0 0 0 1 1 0 2
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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 0 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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

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