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Author

A. Spurdle

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Review Open access Aug 2026

Evidence-based recommendations for application of construct-based splicing data in clinical variant classification

Clinical calibration of minigene results showed that high (≥ 80%) or low (≤ 20%) expression of variant-induced loss of function (LOF) transcripts provide strong evidence towards or against pathogenicity, respectively.

D. Canson, G. Wiggins, Eladio A. Velasco-Sampedro et al. · 0 citations
Aug 2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) research consortium conducted a comprehensive study to characterize spliceogenic variants in BRCA1 exon 18, indicating the degree of splice perturbation required to impair BRCA1 function may depend on the nature of the resulting non-f...

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L. S. Mesman et al. · 0 citations

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