ClinVar Miner

Variants studied for Hereditary spastic paraplegia 49

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
81 73 324 892 54 3 1352

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
TECPR2 79 69 312 880 54 3 1324
LOC130056519, TECPR2 2 4 11 12 0 0 27
ANKRD9, LOC130056519, TECPR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 70 17 179 878 37 0 1181
Natera, Inc. 5 26 192 60 26 0 309
Fulgent Genetics, Fulgent Genetics 3 15 9 1 0 0 28
Institute of Human Genetics, University of Leipzig Medical Center 2 7 7 0 1 0 17
Genome-Nilou Lab 0 0 0 0 11 0 11
Baylor Genetics 1 0 9 0 0 0 10
Revvity Omics, Revvity 1 5 2 0 0 0 8
OMIM 7 0 0 0 0 0 7
Counsyl 0 1 2 0 1 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Genetic Foundation of Khorasan Razavi (GFKR) 0 0 2 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
Tgen's Center for Rare Childhood Disorders, Translational Genomics Research Institute (tgen) 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Dasa 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 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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