ClinVar Miner

Variants in gene TECPR2

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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
22 15 135 243 57 3 434

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spastic paraplegia 49, autosomal recessive 17 13 130 214 32 3 379
not provided 6 2 5 32 20 0 65
not specified 0 0 1 16 16 0 33
Inherited spastic paresis 0 0 1 0 0 0 1
Mental retardation, fra12a type 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Sensory autonomic neuropathy with intellectual disability 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 4 68 209 24 0 321
Natera, Inc. 1 0 74 30 16 0 121
GeneDx 5 1 2 25 36 0 69
Institute of Human Genetics, University of Leipzig Medical Center 2 7 7 0 1 0 17
Baylor Genetics 1 0 9 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 2 0 0 6
Counsyl 0 1 2 0 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 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
OMIM 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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

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