ACMG abstract 484. 2015 March; Carter T, Mulligan S, Westerfield L, Van den Veyver IB. "Low incidence of abnormal cell free fetal DNA testing in the presence of isolated sonographic soft markers for aneuploidy.." ACMG abstract 608. 2016 March
differences identified in ClinVar by reassessing variants and comparing American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) variant interpretation guideline criteria. As of January 1, 2016, there are 6,169 variants in ClinVar interpreted by at least two of the participating labs.
Erratum : Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024)).
Abstract In 2016, the American College of Medical Genetics and Genomics updated their practice guidelines on the provision of non-invasive prenatal genomic screening using cell-free DNA. eMERGE at ACMG 2016 The Annual Clinical Genetics Meeting 2016 runs from March 8th to March 12th All times are in Eastern Time Tuesday, March 8th 2016 Time Location Presenting Author Title Type 3:40pm‐ 4:05pm Ballroom D Gail Jarvik Tools and Approaches to Assess the May 05, 2016 · We evaluated the ability of a variant-classification methodology based on American College of Medical Genetics and Genomics (ACMG) guidelines to define the rate of mutations and variants of uncertain significance (VUS) in 180 medically relevant genes, including all ACMG-designated reportable cancer and non-cancer-associated genes, in individuals who met guidelines for hereditary cancer risk evaluation. Abstract In 2016, the American College of Medical Genetics and Genomics updated their practice guidelines on the provision of non-invasive prenatal genomic screening using cell-free DNA. This article lays out the changes to the guidelines and their implications for clinical practice. ACMG Young Professionals Membership $160 For those earning their initial medical genetics certification in 2019 and for medical genetics certification exam candidates.