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
23 22 193 142 42 350

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 21 101 39 146
not provided 12 16 101 4 1 133
Early infantile epileptic encephalopathy 12 3 0 67 29 20 119
History of neurodevelopmental disorder 2 1 20 24 6 53
Early infantile epileptic encephalopathy 10 7 3 22 6 4 37
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 5 0 1 0 0 6
Inborn genetic diseases 1 1 2 0 0 4
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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 12 15 69 87 39 222
Invitae 3 0 67 29 20 119
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 24 6 57
Illumina Clinical Services Laboratory,Illumina 0 0 23 5 0 28
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
Athena Diagnostics Inc 0 0 2 3 1 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 3 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 4
PreventionGenetics 0 0 0 1 2 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 1
Mendelics 1 0 0 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

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