ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

摘要: ACMG previously developed recommendations for standards interpretation of sequence variations. We now present the updated revised recommendations. Here, we describe six interpretative categories variations: (1) variation is reported and a recognized cause disorder; (2) unreported type which expected to (3) may or not be causative (4) probably disease; (5) neutral variant; (6) known disease, but found associated with clinical presentation. emphasize importance appropriate reporting variations using standardized terminology established databases, clearly limitations sequence-based testing. discuss follow-up studies that used ascertain significance variations, including use additional tools (such as predictive software programs) useful in variant classification. As more information becomes available allowing new variant, it recommended laboratory amend previous reports provide results physician. The strongly recommends technical validation detection performed CLIA-approved interpreted by board-certified molecular geneticist equivalent.