… Genetic testing for germline sequence variants is important for assessing the risk of … The
aim of this study is to determine the rates of pathogenic variants and VUS in genetic testing and …

… . A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance
in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007;81:…

… in clinical germline genetic panel testing has led to an increase in findings of variants of
uncertain clinical significance (… from the Clinical Genome (ClinGen) Resource Sequence Variant …

… 1433 VUSs in BRCA1 and BRCA2 by combining likelihood ratios from co-occurrence analysis,
family history analysis … to estimate has significant biological and clinical implications. For …

… rare variants associated with no or little cancer risk. With the availability and popularity of
next-generation sequencing (NGS), genetic testing … who underwent genetic testing for BRCA …

… sequence variants provide a framework to standardize terminology in the classification of
variants uncovered through genetic testing… of multiple variants of uncertain significance to likely …

… Today, unclear sequence variants may be classified by the use of in silico and experimental
analysis which may predict the impact of an amino acid replacement on the protein folding, …

… Tumors with pathogenic variants within … Medical Genetics and Genomics (ACMG) standards
and guidelines for the interpretation of sequence variants recommend a process for variant …

… is the prevalence of rare sequence variants of uncertain clinical relevance in these … A
systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the …

… Those providing informed consent and without previous genetic testing were recruited.
Multigene panel testing (107 genes) by next-generation sequencing was performed for all …