Variants studied for Hereditary spastic paraplegia 49

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
74	32	229	857	54	3	1192

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	not provided	total
TECPR2	72	32	218	845	54	3	1168
LOC130056519, TECPR2	2	0	10	12	0	0	23
ANKRD9, LOC130056519, TECPR2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 21

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	68	15	173	843	37	0	1136
Natera, Inc.	2	1	103	58	26	0	190
Institute of Human Genetics, University of Leipzig Medical Center	2	7	7	0	1	0	17
Fulgent Genetics, Fulgent Genetics	1	0	9	1	0	0	11
Genome-Nilou Lab	0	0	0	0	11	0	11
Baylor Genetics	1	0	9	0	0	0	10
OMIM	7	0	0	0	0	0	7
Revvity Omics, Revvity	1	3	2	0	0	0	6
Counsyl	0	1	2	0	1	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	1	0	0	0	3
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN)	1	1	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Genomics England Pilot Project, Genomics England	0	2	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	0	1
DASA	0	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1
DECIPHERD-UDD, Universidad del Desarrollo	0	0	1	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.