ClinVar Miner

Variants in gene PPT1

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 86 95 46 33 1 263

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ceroid lipofuscinosis neuronal 1 19 85 46 7 2 1 148
not provided 14 4 23 10 14 0 64
Neuronal Ceroid-Lipofuscinosis, Recessive 1 0 35 8 5 0 49
not specified 0 0 1 26 17 0 40
History of neurodevelopmental disorder 2 0 4 1 4 0 11
Neuronal ceroid lipofuscinosis 5 1 1 0 0 0 7
Inborn genetic diseases 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 11 3 11 27 28 0 80
Invitae 9 4 36 6 2 0 57
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 50 0 0 0 0 50
Illumina Clinical Services Laboratory,Illumina 2 0 35 8 5 0 50
Counsyl 3 36 9 0 0 0 48
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 1 11 0 1 0 18
Ambry Genetics 4 0 4 1 4 0 13
OMIM 10 0 0 0 0 0 10
Mayo Clinic Genetic Testing 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
Integrated Genetics/Laboratory Corporation of America 4 1 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Foundation for Research in Genetics and Endocrinology,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
Athena Diagnostics Inc 1 0 1 0 1 0 3
PreventionGenetics 0 0 0 0 3 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 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
GeneReviews 2 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 1 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
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

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