ClinVar Miner

Variants in gene PNPO

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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
31 27 169 163 30 5 387

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pyridoxal phosphate-responsive seizures 30 23 146 140 20 3 346
not provided 8 8 43 17 19 2 93
Inborn genetic diseases 2 1 23 6 4 0 36
not specified 0 0 6 18 9 0 29
PNPO-related disorder 2 0 1 4 0 0 7
Neuronopathy, distal hereditary motor, type 5A 1 0 0 0 0 0 1
Seizure; Fetal growth restriction; Growth delay 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 23 9 108 136 5 0 281
GeneDx 7 7 34 21 16 0 85
Illumina Laboratory Services, Illumina 1 0 34 6 19 0 60
Ambry Genetics 2 1 23 6 4 0 36
Breakthrough Genomics, Breakthrough Genomics 0 0 4 3 14 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 4 1 0 0 16
Fulgent Genetics, Fulgent Genetics 4 7 1 0 0 0 12
PreventionGenetics, part of Exact Sciences 2 0 1 5 3 0 11
CeGaT Center for Human Genetics Tuebingen 4 0 2 5 0 0 11
Athena Diagnostics 1 1 2 2 2 0 8
Eurofins Ntd Llc (ga) 0 0 7 0 1 0 8
OMIM 6 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 1 4 0 0 6
Revvity Omics, Revvity 1 1 2 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Royal Medical Services, Bahrain Defence Force Hospital 0 1 0 0 0 0 1
Neurogenetics Team, Indira Gandhi Institute of Child Health 0 1 0 0 0 0 1

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