Article
Comparison of the ABC and ACMG systems for variant classification.
European journal of human genetics : EJHG - 1 Jul 2024
Houge Gunnar, Bratland Eirik, Aukrust Ingvild, Tveten Kristian, Žukauskaitė Gabrielė, Sansovic Ivona, Brea-Fernández Alejandro J, Mayer Karin, Paakkola Teija, McKenna Caoimhe, Wright William, Markovic Milica Keckarevic, Lildballe Dorte L, Konecny Michal, Smol Thomas, Alhopuro Pia, Gouttenoire Estelle Arnaud, Obeid Katharina, Todorova Albena, Jankovic Milena, Lubieniecka Joanna M, Stojiljkovic Maja, Buisine Marie-Pierre, Haukanes Bjørn Ivar, Lorans Marie, Roomere Hanno, Petit François M, Haanpää Maria K, Beneteau Claire, Pérez Belén, Plaseska-Karanfilska Dijana, Rath Matthias, Fuhrmann Nico, Ferreira Bibiana I, Stephanou Coralea, Sjursen Wenche, Maver Aleš, Rouzier Cécile, Chirita-Emandi Adela, Gonçalves João, Kuek Wei Cheng David, Broly Martin, Haer-Wigman Lonneke, Thong Meow-Keong, Tae Sok-Kun, Hyblova Michaela, den Dunnen Johan T, Laner Andreas
Abstract excerpt
The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, and to state if the variant in question would be reported as a relevant result or not as a measure of clinical utility. In contrast to the ABC system, the ACMG system was not made to guide variant reporting but to determine the likelihood of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.