The current BAFopathy episignature is trained on positive cases with pathogenic variants in ARID1B, ARID1A, SMARCB1, SMARCA2, and SMARCA4. 17 Hence, it is not possible to completely rule out pathogenicity of a variant of another BAF complex gene as for the case with the ARID2 variant. Here, ARID1B is linked to BAFopathy.