A: The variant NC_000019.10:g.45395727dup in gene PPP1R13L is classified as 'Pathogenic' for Arrhythmogenic_cardiomyopathy_with_variable_ectodermal_abnormalities|Multiple_congenital_anomalies/dysmorphic_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0957795,MedGen:C5882696,OMIM:620519|MONDO:MONDO:0019042,MedGen:C5681310,Orphanet:68341. Review status: criteria provided, single submitter.