ClinVar Miner

Variants in gene PPT1

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
50 92 147 73 41 1 360

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuronal ceroid lipofuscinosis 1 39 90 126 42 17 1 294
not provided 16 5 25 14 14 0 73
not specified 0 0 3 26 17 0 42
History of neurodevelopmental disorder 2 0 3 1 5 0 11
Neuronal ceroid lipofuscinosis 6 1 1 0 0 0 8
Neuronal Ceroid-Lipofuscinosis, Recessive 1 0 5 0 1 0 7
Inborn genetic diseases 2 0 1 0 0 0 3
Intellectual disability 0 0 2 0 0 0 2
Central core myopathy 0 0 0 0 1 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 10 77 41 5 0 164
GeneDx 12 3 11 27 28 0 81
Illumina Clinical Services Laboratory,Illumina 2 0 48 4 14 0 68
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 50 0 0 0 0 50
Counsyl 0 38 9 0 0 0 47
Natera, Inc. 5 0 18 1 6 0 30
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 1 11 0 1 0 18
Ambry Genetics 4 0 4 1 5 0 14
Integrated Genetics/Laboratory Corporation of America 9 1 2 0 1 0 13
OMIM 10 0 0 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 4 3 0 8
Genetic Services Laboratory, University of Chicago 1 0 1 4 0 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 1 0 0 0 5
Athena Diagnostics Inc 1 0 1 0 2 0 4
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 1 1 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 1 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 1 0 2
Laboratory of Genetics in Ophthalmology,Institut Imagine 1 1 0 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1

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