ClinVar Miner

Variants in gene TRDN

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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 total
27 17 238 126 84 473

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Catecholaminergic polymorphic ventricular tachycardia 21 11 211 63 13 319
not provided 4 6 22 37 57 126
not specified 0 0 16 43 27 83
Cardiovascular phenotype 0 0 19 17 18 54
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 5 1 4 2 7 19

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 11 207 74 12 325
GeneDx 2 3 20 50 74 149
Ambry Genetics 0 0 19 17 18 54
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 12 11 24 47
PreventionGenetics, PreventionGenetics 0 0 0 0 14 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 2 6 11
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 5 6
Illumina Clinical Services Laboratory,Illumina 0 0 4 1 1 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 1 0 6
OMIM 3 0 0 0 0 3
Lineagen, Inc 2 0 1 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 2 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 2 0 0 3
Baylor Genetics 1 0 1 0 0 2
Mendelics 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 1 1

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