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
41 53 138 80 41 26 307

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 20 7 62 3 19 1 109
Neuronal ceroid lipofuscinosis 14 3 47 19 18 0 100
Ceroid lipofuscinosis neuronal 2 18 45 11 2 2 24 86
not specified 0 0 8 54 25 0 75
Neuronal Ceroid-Lipofuscinosis, Recessive 0 0 34 4 5 0 43
Seizures 0 1 14 11 11 0 37
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 4 0 7 0 0 1 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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 21 6 45 42 24 0 138
Invitae 11 2 47 19 18 0 97
Counsyl 7 35 10 2 0 0 54
Illumina Clinical Services Laboratory,Illumina 2 0 34 4 5 0 45
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 0 2 15 0 19
Athena Diagnostics Inc 1 0 6 3 4 0 14
Genetic Services Laboratory, University of Chicago 2 0 4 6 0 0 12
OMIM 11 0 0 0 0 0 11
Fulgent Genetics 5 0 6 0 0 0 11
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,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
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
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
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 0 1 0 0 0 2
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
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 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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