ClinVar Miner

Variants in gene CLN3

Minimum submission review status: Collection method:
Minimum conflict level:
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
32 86 120 74 24 291

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Juvenile neuronal ceroid lipofuscinosis 13 76 7 2 0 92
not provided 11 6 64 3 3 87
Neuronal ceroid lipofuscinosis 7 1 45 14 8 75
not specified 0 0 6 50 23 72
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 0 29 3 1 33
Seizures 0 0 10 7 5 22
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

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 10 5 52 44 22 133
Invitae 7 0 44 14 8 73
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 54 0 0 0 54
Counsyl 4 28 4 2 0 38
Illumina Clinical Services Laboratory,Illumina 0 0 30 3 1 34
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 19 2 4 28
Ambry Genetics 0 0 10 7 5 22
OMIM 7 0 0 0 0 7
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
Athena Diagnostics Inc 0 0 1 1 1 3
Fulgent Genetics 0 0 3 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 1 0 0 0 3
PreventionGenetics 0 0 0 1 1 2
GeneReviews 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 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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