ClinVar Miner

Variants in gene PRRT2

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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 total
41 11 78 53 17 179

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dystonia 10 14 2 25 12 8 61
not provided 13 7 32 6 3 60
not specified 0 0 7 37 13 53
Paroxysmal kinesigenic dyskinesia 12 1 23 0 0 36
History of neurodevelopmental disorder 1 0 2 6 2 11
Infantile convulsions and paroxysmal choreoathetosis, familial 9 0 0 0 0 9
Seizures, benign familial infantile, 2 7 1 0 0 0 7
Seizures, benign familial infantile, 2; Dystonia 10; Infantile convulsions and paroxysmal choreoathetosis, familial 1 1 2 0 0 4
Seizures 1 0 1 0 0 2
Complex febrile seizures 0 0 1 0 0 1
Global developmental delay; Hyperactivity; Seizures; Intellectual disability, profound 0 0 1 0 0 1
Seizures, benign familial infantile, 2; Dystonia 10 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 13 7 21 39 11 91
Invitae 15 3 48 12 8 86
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 13 4 6 25
OMIM 16 0 0 0 0 16
Ambry Genetics 1 0 2 6 2 11
Genetic Services Laboratory, University of Chicago 1 0 2 2 1 6
Athena Diagnostics Inc 1 0 1 0 3 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 2 1 4
GeneReviews 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
PreventionGenetics 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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