A: The variant NC_000020.11:g.34440226AATACA[2] in gene ITCH is classified as 'Uncertain_significance' for Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0013245,MedGen:C3150649,OMIM:613385,Orphanet:228426. Review status: criteria provided, single submitter.