Variants studied for hereditary spastic paraplegia 17

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
5	1	34	10	4	4	55

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
BSCL2, HNRNPUL2-BSCL2	4	1	33	10	4	4	53
BSCL2, GNG3, HNRNPUL2-BSCL2	0	0	1	0	0	0	1
SON	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	2	0	31	10	0	0	43
GeneReviews	0	0	0	0	0	4	4
Genome-Nilou Lab	0	0	0	0	4	0	4
OMIM	2	0	0	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	1	0	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	1	0	0	0	0	0	1
Paris Brain Institute, Inserm - ICM	1	0	0	0	0	0	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	1	0	0	0	0	0	1

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