Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies

LM Amendola, K Muenzen, LG Biesecker… - The American Journal of …, 2020 - cell.com
… additional laboratories using the ACMG-AMP guidelines. Overall concordance across three
laboratories … exist across laboratories, as well as between laboratories and clinical providers. …

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting… - Genome medicine, 2020 - Springer
… However, they did not provide detailed guidance on how … to variant interpretation discordance
between laboratories. This … benign and known pathogenic variant performance. Similarly, …

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

C Fortuno, K Lee, M Olivier, T Pesaran, PL Mai… - Human …, 2021 - Wiley Online Library
… for 20 ACMG/AMP criteria, while nine were deemed not … with representation on our VCEP,
so that laboratory's assertion in … between biocurators using the original ACMG/AMP and the …

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

MJ Patel, MT DiStefano, AM Oza, MY Hughes… - Genetics in …, 2021 - nature.com
… of the ACMG/AMP variant rules by the HL VCEP [5, 9], 157 … Sharing of internal clinical
laboratory case data among members of … to strike a balance between efficiency and leveraging the …

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library
among clinical laboratories, in particular, allowing for increased visibility of rare … Similarly,
the nine base-pair insertion-deletion polymorphism between the MT-CO2 and MT-TK genes is …

[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …

…, ACMG Laboratory Quality Assurance Committee - Genetics in …, 2021 - Elsevier
… iterative review and editing between the workgroup and the … Suggestions regarding filtering
relative to variant interpretation … analyzed and classified using the ACMG/AMP standards. …

[HTML][HTML] Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy

CM Richmond, PA James, SJ Pantaleo, B Chong… - Genetics in …, 2021 - Elsevier
… changes for nine variants (53%) by ACMG-AMP criteria, of … Differences between original
ACMG-AMP and ClinGen … for use with ACMG/AMP clinical variant interpretation guidelines

An initial survey of the performances of exome variant analysis and clinical reporting among diagnostic laboratories in China

K Zhang, G Lin, D Han, Y Han, J Wang, Y Shen… - Frontiers in …, 2020 - frontiersin.org
laboratories do not pay enough attention to updates and do not apply them for variant
interpretation … specifications to the ACMG/AMP variant interpretation guidelines for the PAH gene 1 …

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

CG Preston, MW Wright, R Madhavrao, SM Harrison… - Genome medicine, 2022 - Springer
standards, substantial variability remains among variant curation tools and data sharing by
health care providers, clinical diagnostic laboratories, and … Sequence Variant Interpretation

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

G Nicora, S Zucca, I Limongelli, R Bellazzi, P Magni - Scientific reports, 2022 - nature.com
ACMG/AMP guidelines for germline variant interpretation as … In order to identify them,
clinical laboratory geneticists often … evidence to infer variant pathogenicity 9 . Indeed, other …