ClinVar Miner

Variants in gene CLN3

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 total
50 94 174 119 34 403

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuronal ceroid lipofuscinosis 22 8 88 48 9 174
Juvenile neuronal ceroid lipofuscinosis 15 76 57 6 5 152
not provided 16 7 66 29 11 128
not specified 0 0 6 50 23 72
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 0 29 2 1 32
Seizures 0 0 10 7 5 22
Retinal dystrophy 2 2 5 0 0 9
Retinitis pigmentosa 2 5 0 0 0 7
Ceroid lipofuscinosis, neuronal, 3, protracted 3 1 0 0 0 4
See cases 2 0 0 0 0 2
Epilepsy, progressive myoclonic 3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 6 87 61 9 184
GeneDx 11 6 52 55 30 154
Illumina Clinical Services Laboratory,Illumina 0 0 54 5 4 60
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 54 0 0 0 54
Counsyl 5 29 4 2 0 40
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 19 2 4 28
Ambry Genetics 0 0 10 7 5 22
Blueprint Genetics 2 2 5 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 4 1 3 0 0 8
OMIM 7 0 0 0 0 7
Athena Diagnostics Inc 1 0 1 3 1 6
Genetic Services Laboratory, University of Chicago 0 0 2 4 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 2 2 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 1 0 4
Natera Inc 0 0 2 1 1 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 1 0 0 0 3
PreventionGenetics,PreventionGenetics 0 0 0 1 1 2
Mendelics 1 1 0 0 0 2
GeneReviews 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 1

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