Variants studied for Charcot-Marie-Tooth disease type 1F

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)

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	2	31	8	14	5	70

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
NEFL	12	2	31	8	14	5	70

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	22	7	14	0	43
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	2	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	4	0	0	0	4
GeneReviews	0	0	0	0	0	4	4
OMIM	4	0	0	0	0	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	1	0	0	3
3billion	2	0	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	0	2
CMT Laboratory, Bogazici University	0	1	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Institute of Human Genetics Munich, TUM University Hospital	1	0	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1

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