Variants studied for hereditary spastic paraplegia 28

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	total
19	2	178	117	26	342

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	total
DDHD1	19	2	170	110	26	327
DDHD1, LOC130055658	0	0	7	7	0	14
BMP4, DDHD1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	11	0	175	117	24	327
Genome-Nilou Lab	0	0	0	0	6	6
OMIM	4	0	0	0	0	4
Paris Brain Institute, Inserm - ICM	3	0	0	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	0	0	1
Breda Genetics srl	0	1	0	0	0	1
Dr.Nikuei Genetic Center	1	0	0	0	0	1

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