ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis 1

Coded as:
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
88 128 207 250 29 3 642

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PPT1 86 126 202 241 28 3 624
LOC129930245, PPT1 2 2 3 9 1 0 16
CLN8 0 0 1 0 0 0 1
LOC121725014, LOC129930244, LOC129930245, PPT1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 81 30 153 246 11 0 521
Natera, Inc. 7 1 52 4 9 0 73
Illumina Laboratory Services, Illumina 1 0 43 4 13 0 61
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 50 0 0 0 0 50
Counsyl 0 38 9 0 0 0 47
Baylor Genetics 19 22 1 0 0 0 42
OMIM 9 0 0 0 0 0 9
Genome-Nilou Lab 0 0 1 0 8 0 9
Revvity Omics, Revvity 5 0 3 0 0 0 8
Fulgent Genetics, Fulgent Genetics 3 1 4 0 0 0 8
Myriad Genetics, Inc. 3 3 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 0 5
3billion 2 2 1 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 1 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Mendelics 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Laboratory of Genetics in Ophthalmology, Institut Imagine 1 1 0 0 0 0 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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