Variants studied for Neuronal ceroid lipofuscinosis 13

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
12	11	37	43	17	1	115

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CTSF	12	11	37	43	17	1	115

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	4	2	29	40	17	0	92
Fulgent Genetics, Fulgent Genetics	0	5	0	3	0	0	8
OMIM	6	0	0	0	0	0	6
Revvity Omics, Revvity	0	3	2	0	0	0	5
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	4	0	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	4	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	3	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	2	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Genetic Services Laboratory, University of Chicago	2	0	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	0	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
3billion	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
Firoozgar Clinical Hospital, Iran University of Medical Sciences	0	1	0	0	0	0	1

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