List of genetic variants evaluated in the reinterpretation.
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posted on 2024-05-01, 17:25 authored by Anna Fernandez-Falgueras, Monica Coll, Anna Iglesias, Coloma Tiron, Oscar Campuzano, Ramon BrugadaList of genetic variants evaluated in the reinterpretation.
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main challenges associatedgenetic variants identifiedgenetic counsellors playpathogenic genetic variantproviding clinical evidencelong qt syndromegenetic analyses playinitial classification showedshowed reclassification ratesinherited cardiovascular diseasesgenetic variant classificationgenetic variant reinterpretationgenetic analysesreclassification ratesvariant reinterpretationdefinitive evidencebrugada syndromeroutine reinterpretationreinterpretation wouldreinterpretation processfrequent reinterpretationrare diseasespotential implicationskey rolehypertrophic cardiomyopathyfull cohortexpert professionalsevaluated cohortsdilated cardiomyopathydifferent cohortsdiagnostic criteriondeemed convenientcritical rolecommunicating changescardiac channelopathiesarrhythmogenic cardiomyopathyappropriate periodicityappropriate frequency
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