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
22	4	179	145	26	376

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DDHD1	22	4	171	138	26	361
DDHD1, LOC130055658	0	0	7	7	0	14
BMP4, DDHD1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	14	0	176	145	24	359
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
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	1	0	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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.