ClinVar Miner

Variants in gene PNKP

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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
28 25 217 186 53 428

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 13 19 108 83 30 229
not specified 0 0 20 101 39 146
Early infantile epileptic encephalopathy 12 7 0 94 11 1 113
History of neurodevelopmental disorder 2 1 20 22 8 53
Early infantile epileptic encephalopathy 10 8 3 23 6 4 39
Epileptic encephalopathy 0 0 20 5 0 25
Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4 0 0 9 0 0 9
Ataxia-oculomotor apraxia 4 6 0 1 0 0 7
Inborn genetic diseases 1 1 2 0 0 4
Ataxia-oculomotor apraxia type 1 0 1 0 0 0 1
Global developmental delay; Cerebellar atrophy; Primary microcephaly 0 1 0 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 1
See cases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 12 17 69 97 46 241
Invitae 7 0 94 74 24 199
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 46 5 11 65
Genetic Services Laboratory, University of Chicago 4 3 34 10 7 58
Ambry Genetics 3 2 22 22 8 57
Illumina Clinical Services Laboratory,Illumina 0 0 23 5 0 28
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 10 4 0 14
Athena Diagnostics Inc 0 0 3 5 5 13
Fulgent Genetics,Fulgent Genetics 0 0 9 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 4 4 9
OMIM 8 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 3 3 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 3 0 6
Mendelics 2 1 0 0 1 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 4
PreventionGenetics,PreventionGenetics 0 0 0 1 2 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 1 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 1

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