A: The variant NC_000022.11:g.50457113T>C in gene SBF1 is classified as 'Likely_pathogenic' for SBF1-related_disorder. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: .. Review status: no assertion criteria provided.