ClinVar Miner

Variants in gene TPP1

See also:
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
138 139 487 542 62 29 1195

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 120 55 385 511 51 1 1049
Neuronal ceroid lipofuscinosis 2 44 75 180 15 26 27 319
Inborn genetic diseases 7 1 63 22 11 0 104
not specified 0 0 22 49 33 0 90
Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 16 22 22 7 1 2 68
Neuronal ceroid lipofuscinosis 22 15 1 0 2 0 39
TPP1-related disorder 2 2 1 12 0 0 17
Autosomal recessive spinocerebellar ataxia 7 4 3 1 0 6 0 14
Neuronal Ceroid-Lipofuscinosis, Recessive 0 0 10 1 1 0 12
Abnormality of the nervous system 3 0 0 0 0 0 3
See cases 1 1 0 0 0 0 2
Angelman syndrome 1 0 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Juvenile neuronal ceroid lipofuscinosis 0 1 0 0 0 0 1
Seizure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 115 32 323 476 26 0 972
GeneDx 25 13 84 65 44 0 231
Natera, Inc. 17 2 122 5 15 0 161
Ambry Genetics 7 1 63 22 11 0 104
Illumina Laboratory Services, Illumina 4 0 59 9 10 0 82
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 14 14 7 7 0 61
Fulgent Genetics, Fulgent Genetics 16 22 15 6 1 0 60
Counsyl 4 36 11 2 0 0 53
Breakthrough Genomics, Breakthrough Genomics 0 0 5 13 20 0 38
Revvity Omics, Revvity 11 8 14 0 0 0 33
CeGaT Center for Human Genetics Tuebingen 8 2 9 7 7 0 33
Eurofins Ntd Llc (ga) 1 0 21 5 3 0 30
Mayo Clinic Laboratories, Mayo Clinic 3 0 10 2 15 0 30
PreventionGenetics, part of Exact Sciences 2 2 1 13 8 0 26
UniProtKB/Swiss-Prot 0 0 0 0 0 23 23
Athena Diagnostics 1 0 7 3 11 0 22
Myriad Genetics, Inc. 3 15 0 0 0 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 8 1 0 0 0 13
OMIM 12 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 2 0 4 5 1 0 12
Genome-Nilou Lab 0 1 2 1 6 0 10
Baylor Genetics 7 0 2 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 1 3 3 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 0 2 3 0 9
Mendelics 5 1 0 1 1 0 8
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 7 0 8
3billion 3 1 4 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 1 0 1 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 0 3 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 1 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 1 0 0 0 4
New York Genome Center 1 0 3 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 0 3
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 0 0 0 0 3
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 2
GeneReviews 1 0 0 0 0 1 2
Blueprint Genetics 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 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 for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1

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