A: The variant NC_000020.11:g.3195363T>C in gene DDRGK1 is classified as 'Benign' for not_provided|Spondyloepimetaphyseal_dysplasia,_Shohat_type. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0011252,MedGen:C1865185,OMIM:602557,Orphanet:93352. Review status: criteria provided, multiple submitters, no conflicts.