ClinVar Miner

Variants in gene TPP1

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
70 65 280 173 52 26 564

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 51 20 183 108 27 1 368
Ceroid lipofuscinosis neuronal 2 25 49 101 13 15 23 200
Neuronal ceroid lipofuscinosis 17 4 61 25 20 0 127
not specified 0 0 8 54 25 0 75
Seizures 0 1 14 11 11 0 37
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 4 0 10 0 0 2 15
Neuronal Ceroid-Lipofuscinosis, Recessive 0 0 10 1 1 0 12
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 4 1 0 0 0 0 5
Inborn genetic diseases 5 0 0 0 0 0 5
Seizures; Intellectual disability 0 0 2 0 0 0 2
Developmental regression 1 0 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 12 173 116 20 0 368
GeneDx 21 6 45 52 32 0 156
Illumina Clinical Services Laboratory,Illumina 2 0 59 9 10 0 80
Natera, Inc. 4 0 45 3 9 0 61
Counsyl 4 36 11 2 0 0 53
Ambry Genetics 5 1 13 11 11 0 41
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 21 5 3 0 30
UniProtKB/Swiss-Prot 0 0 0 0 0 23 23
Athena Diagnostics Inc 1 0 7 4 10 0 22
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 2 15 0 19
Integrated Genetics/Laboratory Corporation of America 9 2 0 0 2 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 5 2 0 0 13
Genetic Services Laboratory, University of Chicago 2 0 4 5 1 0 12
OMIM 11 0 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 5 0 6 0 0 0 11
Baylor Genetics 7 0 2 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 1 8 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 8 1 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 1 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 0 2 0 5
Mendelics 2 1 0 0 1 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 2 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 1 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 0 1 0 2
GeneReviews 2 0 0 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
Kasturba Medical College, Manipal University 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1

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