ClinVar Miner

Variants in gene TPP1

Minimum submission review status: Collection method:
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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
50 58 194 125 52 26 420

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuronal ceroid lipofuscinosis 27 7 90 40 20 0 183
not provided 24 7 67 37 27 1 155
Ceroid lipofuscinosis neuronal 2 20 47 59 10 10 24 151
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 8 0 0 1 13
Neuronal Ceroid-Lipofuscinosis, Recessive 0 0 10 1 1 0 12
Inborn genetic diseases 5 0 0 0 0 0 5
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 3 0 0 0 0 0 3
Developmental regression 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 23 5 90 62 20 0 200
GeneDx 21 6 45 52 32 0 156
Illumina Clinical Services Laboratory,Illumina 2 0 59 9 10 0 80
Counsyl 7 36 11 2 0 0 56
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 7 0 19
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 0 2 15 0 19
Genetic Services Laboratory, University of Chicago 2 0 4 6 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 5 0 6 1 0 0 12
OMIM 11 0 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 5 0 6 0 0 0 11
PreventionGenetics,PreventionGenetics 0 0 0 1 8 0 9
Integrated Genetics/Laboratory Corporation of America 5 2 0 0 2 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 8 1 0 0 0 9
Baylor Genetics 6 0 0 0 0 0 6
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
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 0 1 0 2
GeneReviews 2 0 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
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
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 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

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