A: The variant NC_000020.11:g.34479694G>T in gene ITCH is classified as 'Uncertain_significance' for Inborn_genetic_diseases|Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013245,MedGen:C3150649,OMIM:613385,Orphanet:228426. Review status: criteria provided, multiple submitters, no conflicts.