ClinVar Miner

Variants in gene CLN3

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 total
69 103 229 182 34 534

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuronal ceroid lipofuscinosis 38 18 162 115 10 337
Neuronal ceroid lipofuscinosis 3 17 79 62 6 5 161
not provided 19 7 66 29 11 131
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 4 5 0 0 0 9
Ceroid lipofuscinosis, neuronal, 3, protracted 3 1 0 0 0 4
Intellectual disability 1 0 0 3 0 4
Cone-rod dystrophy 2 0 0 0 0 2
See cases 2 0 0 0 0 2
early onset and severe retinal dystrophy 1 1 0 0 0 2
Epilepsy, progressive myoclonic 3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 37 14 158 124 9 342
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
Natera, Inc. 1 1 17 3 3 25
Ambry Genetics 0 0 10 7 5 22
Integrated Genetics/Laboratory Corporation of America 8 5 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 4 0 0 11
Blueprint Genetics 2 2 5 0 0 9
OMIM 7 0 0 0 0 7
Athena Diagnostics Inc 1 0 1 3 2 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 2 2 7
Genetic Services Laboratory, University of Chicago 0 0 2 4 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 0 0 5
Molecular Genetics Laboratory,Institute for Ophthalmic Research 4 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 1 0 4
Baylor Genetics 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 3
Human Genetics - Radboudumc,Radboudumc 2 1 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Laboratory of Genetics in Ophthalmology,Institut Imagine 1 1 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
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Human Genetics Department,Tarbiat Modares University 0 1 0 0 0 1
Myriad Women's Health, Inc. 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.