ClinVar Miner

Variants studied for Hereditary spastic paraplegia 49

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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
70 31 229 857 54 3 1187

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 68 31 218 845 54 3 1163
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 14 173 843 37 0 1132
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
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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