Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and …

EC Chao, C Astbury, JL Deignan, M Pronold… - Genetics in …, 2021 - nature.com
METHODS This points to consider statement was informed by a review of the literature and
current guidelines. Resources consulted included PubMed and relevant American College of …

[HTML][HTML] … in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American …

MM Li, M Datto, EJ Duncavage, S Kulkarni… - The Journal of molecular …, 2017 - Elsevier
American College of Medical Genetics and Genomics (ACMG), American Society of Clinical
Oncology, and College of … kinase pathway, resulting in acquired resistance to BRAF inhibitor …

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics …

S Richards, N Aziz, S Bale, D Bick, S Das… - Genetics in …, 2015 - nature.com
… , reproducibility, and robustness data that assess the analytical performance of the assay
and account for specimen integrity, which can be affected by the method and time of acquisition

[HTML][HTML] American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

…, F Quintero-Rivera, ST South, AWG of the American - Genetics in …, 2011 - Elsevier
… A copy number variant (CNV) is defined as a segment of … microarray results, the American
College of Medical Genetics (… These guidelines do not apply to CNVs representing acquired

[HTML][HTML] Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics …

G Raca, C Astbury, A Behlmann, MJ De Castro… - Genetics in …, 2023 - Elsevier
variants. … the American College of Medical Genetics and Genomics (ACMG) and the Cancer
Genomics Consortium (CGC). In the following sections, we first describe the types of variants

[HTML][HTML] Assessments of somatic variant classification using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American …

MM Li, CE Cottrell, M Pullambhatla, S Roy… - The Journal of Molecular …, 2023 - Elsevier
… of acquired somatic and germline genetic variants in the … relevance of a variant (eg,
distinguishing a driver variant that is … of American Pathologists (CAP), and American College of …

… of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing …

JK Ponińska, ZT Bilińska, G Truszkowska… - Journal of Translational …, 2022 - Springer
… tested in the routine clinical setting for variants in 30 genes associated with TAAD or 174 …
the performance of variant classification based on recommendations of American College of …

[HTML][HTML] … for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics …

ER Riggs, EF Andersen, AM Cherry, S Kantarci… - 2020 - Elsevier
… To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the
technology used to identify them, the American College of Medical Genetics and Genomics …

[HTML][HTML] … agreement of variant classification based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American …

D Sirohi, RL Schmidt, DL Aisner, A Behdad… - The Journal of Molecular …, 2020 - Elsevier
… for variant classification in solid tumors when using the 2017 Association for Molecular
Pathology/American Society of Clinical Oncology/College of American … the American College of …

… Acquired Copy Number Variants (CNVs) and Copy Neutral Loss of Heterozygosity (CN-LOH) in Neoplastic Disorders: Joint Recommendations From the American …

G Raca, J Biegel, L Cooley, A Dubuc… - Cancer …, 2017 - cancergeneticsjournal.org
… transparency in the interpretation of acquired CNVs and CN-… variants detected by CMA
clinical testing. The resulting framework will include a process for classifying acquired variants