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
17 10 159 121 88 363

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 12 4 126 28 10 179
not provided 4 6 21 53 67 149
not specified 0 0 15 43 27 82
Cardiovascular phenotype 0 0 21 15 18 54
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 4 1 2 2 1 10

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 4 90 50 12 168
GeneDx 2 3 20 50 74 149
Illumina Clinical Services Laboratory,Illumina 0 0 39 19 9 67
Ambry Genetics 0 0 21 15 18 54
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 11 11 24 46
PreventionGenetics,PreventionGenetics 0 0 0 0 14 14
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 5 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 1 0 4
OMIM 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 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 0 0 0 1
Mendelics 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 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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