{"id":7255,"date":"2024-02-08T21:14:58","date_gmt":"2024-02-08T21:14:58","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7255"},"modified":"2026-06-22T16:28:54","modified_gmt":"2026-06-22T16:28:54","slug":"criterios-de-patogenicidad-de-la-acmg","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/de\/criterios-de-patogenicidad-de-la-acmg\/","title":{"rendered":"Criterios de patogenicidad de la ACMG."},"content":{"rendered":"<h2 class=\"wp-block-heading\">Criterios de Patogenicidad de la ACMG (American College of Medical Genetics and Genomics)<\/h2>\n\n\n\n<p>Los criterios establecidos por el ACMG y la AMP (Association for Molecular Pathology) gu\u00edan la clasificaci\u00f3n e interpretaci\u00f3n cl\u00ednica de variantes gen\u00e9ticas identificadas en estudios moleculares:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n    <li><strong>Patog\u00e9nica:<\/strong> Evidencia cient\u00edfica abrumadora que demuestra que la variante causa la enfermedad.<\/li>\n    <li><strong>Probablemente Patog\u00e9nica:<\/strong> Alta probabilidad (>90%) de que la variante sea causal.<\/li>\n    <li><strong>Variante de Significado Incierto (VUS\/VSI):<\/strong> No hay evidencia suficiente para clasificarla como benigna o patog\u00e9nica.<\/li>\n    <li><strong>Probablemente Benigna:<\/strong> Alta probabilidad de que la variante no est\u00e9 relacionada con la enfermedad.<\/li>\n    <li><strong>Benigna:<\/strong> Evidencia de que la variante es un polimorfismo com\u00fan sin impacto cl\u00ednico pat\u00f3geno.<\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":"<p>Criterios de Patogenicidad de la ACMG (American College of Medical Genetics and Genomics) Los criterios establecidos por el ACMG y la AMP (Association for Molecular Pathology) gu\u00edan la clasificaci\u00f3n e interpretaci\u00f3n cl\u00ednica de variantes gen\u00e9ticas identificadas en estudios moleculares: Patog\u00e9nica: Evidencia cient\u00edfica abrumadora que demuestra que la variante causa la enfermedad. Probablemente Patog\u00e9nica: Alta probabilidad &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/de\/criterios-de-patogenicidad-de-la-acmg\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abCriterios de patogenicidad de la ACMG.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7269,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-7255","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/posts\/7255","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/comments?post=7255"}],"version-history":[{"count":5,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/posts\/7255\/revisions"}],"predecessor-version":[{"id":8285,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/posts\/7255\/revisions\/8285"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/media\/7269"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/media?parent=7255"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/categories?post=7255"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/tags?post=7255"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}