A: The variant NC_000022.11:g.42514775C>G in gene RRP7A is classified as 'Pathogenic' for Microcephaly_28,_primary,_autosomal_recessive. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030339,MedGen:C5562069,OMIM:619453. Review status: no assertion criteria provided.