A: The variant NC_000020.11:g.25407872delinsCA in gene GINS1 is classified as 'Uncertain_significance' for Combined_immunodeficiency_due_to_GINS1_deficiency. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0044725,MedGen:C5568132,OMIM:617827,Orphanet:505227. Review status: no assertion criteria provided.