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Article

Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.

Journal of medical genetics - 21 Dec 2023

Yoon Eungjun, Lee Jong Kwon, Park Taek Kyu, Chang Sung-A, Huh June, Kim Jong-Won, Kim Duk-Kyung, Jang Ja-Hyun

Abstract excerpt

BACKGROUND: Despite the 2015 American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) guideline, many variants of FBN1 gene remain inconclusive. In line with publication of the FBN1-specific variant interpretation guideline by ClinGen in 2022, we reassessed variants of uncertain significance (VUS) in FBN1 gene found in our institution. METHODS: VUS found in the course...

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Adipokines
Fibrillin-1
Genetic Testing
Genetic Variation
Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Sequence Analysis, DNA

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PMID: 37558401
DOI: 10.1136/jmg-2023-109433

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