… to the ACMG Board of Directors for review and approval to post on … ACMG website for
member comment. Upon posting to the ACMG website, an email and link were sent to all ACMG …

… The term “acquired variants” is used in this document to refer to both … Acquired variants
or a specific pattern of acquired variants with average quality evidence (levels 4 and 5 CEBM …

… variant panels; however, at the time, expanded CFTR variant … variants. Both of those aspects
have now evolved, prompting this update of the ACMG technical standards for CFTR variant …

… for CDH1 variant classifications. Here, we describe the CDH1 specifications of the ACMG/…
validated after a systematic evaluation of variants obtained from a cohort of clinical laboratory …

… Reflective of this merger between sequence and copy number variant detection, the
American Board of Medical Genetics and Genomics (ABMGG) has merged cytogenetic and …

… genetics subcommittee of the ACMG Laboratory Quality Assurance Committee, accepted
by the ACMG … Actual coverage should be reported when full coverage is not obtained. The …

… These standards do not apply to acquired CNVs in neoplasia. In addition, this document does
not … the evidence surrounding a particular genomic variant and assigning a classification. …

… Increased confidence may be obtained through independent analyses that support the same
SV (eg, if a deletion is detected by a depth of coverage algorithm and split reads containing …

… cells harboring an acquired aberration that confers a mild … These include variants in the
59 genes on the current ACMG … or exome/genome sequencing may also reveal variations in …

… To identify the extent of concordance among in silico algorithms for known pathogenic and
benign variants, we obtained 14,819 missense variants from ClinVar for which the rationale …