A: The variant NC_000019.10:g.15174248A>G in gene NOTCH3 is classified as 'Pathogenic' for Myofibromatosis,_infantile,_2|Myofibromatosis,_infantile,_1. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014122,MedGen:C3809084,OMIM:615293,Orphanet:2591|MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550,Orphanet:2591. Review status: no assertion criteria provided.