No RAD51D expert panel specifications of the American College of Medical Genetics and Genomics or the Association for Molecular Pathology (ACMG/AMP) variant curation guidelines were currently available (www.clinicalgenome.org, last accessed on 29 December 2020). Therefore, we performed a tentative classification based on: (i) generic ACMG/AMP guidelines [29], (ii) specific recommendations of the ClinGen Sequence Variant Interpretation Working Group for interpreting the loss-of-function PVS1 [30] and functional PS3/BS3 evidence codes [31], (iii) some non-gene-specific approaches proposed by the ClinGen CDH1 variant curation expert panel [32] and (iv) ad hoc rules based on expert judgment. The latter were essential to assign a specific functional splicing code (PS3/BS3) to complex minigene readouts (Supplementary Methods). In addition to PS3/BS3, only the rarity code (PM2) made a significant contribution to the classification process.

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