ClinVar Miner

Variants in gene TECPR2

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Minimum submission review status: Collection method:
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Gene type:
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
71 33 303 918 94 3 1331

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary spastic paraplegia 49 68 30 218 845 54 3 1162
not provided 5 2 40 86 46 0 176
Hereditary spastic paraplegia 1 2 51 12 8 0 74
Inborn genetic diseases 1 0 58 6 0 0 65
not specified 0 0 5 15 15 0 33
TECPR2-related condition 0 0 0 24 1 0 25
Inherited spastic paresis 0 0 1 0 0 0 1
Intellectual disability, FRA12A type 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
See cases 0 0 0 1 0 0 1
Sensory autonomic neuropathy with intellectual disability 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 63 14 165 831 37 0 1110
Natera, Inc. 2 1 98 58 26 0 185
GeneDx 4 1 21 70 61 0 157
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 51 12 8 0 71
Ambry Genetics 1 0 58 6 0 0 65
CeGaT Center for Human Genetics Tuebingen 0 1 9 30 0 0 40
PreventionGenetics, part of Exact Sciences 0 0 0 24 1 0 25
Institute of Human Genetics, University of Leipzig Medical Center 2 7 7 0 1 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 0 0 0 11
Genome-Nilou Lab 0 0 0 0 11 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 4 3 0 0 10
Fulgent Genetics, Fulgent Genetics 1 0 8 1 0 0 10
Baylor Genetics 1 0 8 0 0 0 9
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
Clinical Genetics, Academic Medical Center 0 0 0 2 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Clinical Genomics Unit, Sheba Medical Center 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

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