ClinVar Miner

Variants in gene TNXB

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Minimum submission review status: Collection method:
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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
7 4 63 16 54 1 138

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 5 7 54 0 66
not provided 0 3 41 9 0 0 53
Inborn genetic diseases 1 0 5 0 0 0 6
Ehlers-Danlos-like syndrome due to tenascin-X deficiency 0 0 5 0 0 0 5
Ehlers-Danlos-like syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 0 5 0 0 0 5
Ehlers-Danlos syndrome, classic-like, 1 4 0 0 0 0 0 4
Vesicoureteral reflux 8 2 0 1 0 0 0 3
Cyanosis; Myoclonus; Dyspnea; Neonatal breathing dysregulation; Abnormal pattern of respiration; Breathing dysregulation; Muscular hypotonia 0 0 2 0 0 0 2
Ehlers-Danlos syndrome, type 3 0 1 0 0 0 1 2
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PreventionGenetics 0 0 0 7 54 0 61
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 22 5 0 0 28
GeneDx 0 2 20 0 1 0 23
OMIM 6 0 0 0 0 0 6
Ambry Genetics 1 0 5 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 2 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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