A: The variant NC_000020.11:g.3200341C>T in gene DDRGK1 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia,_Shohat_type. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011252,MedGen:C1865185,OMIM:602557,Orphanet:93352. Review status: no assertion criteria provided.