ClinVar Miner

Variants studied for Hereditary spastic paraplegia 49

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Gene type:
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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 32 231 857 54 3 1194

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 72 32 220 845 54 3 1170
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
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

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