Fig. 5: Decision tree to assist in the interpretation of predicted loss-of-function variants according to American College of Medical Genetics and Genomics (ACMG) guidelines based on functional data presented in this paper. | Genetics in Medicine

Fig. 5: Decision tree to assist in the interpretation of predicted loss-of-function variants according to American College of Medical Genetics and Genomics (ACMG) guidelines based on functional data presented in this paper.

From: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Fig. 5: Decision tree to assist in the interpretation of predicted loss-of-function variants according to American College of Medical Genetics and Genomics (ACMG) guidelines based on functional data presented in this paper.

Additional data and considerations are needed to determine the appropriate strength of the PS3/BS3 criteria as stated in Brnich et al.33HDR homology directed repair.

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