A: The variant NC_000020.11:g.2470762G>T in gene SNRPB is classified as 'Pathogenic' for Cerebro-costo-mandibular_syndrome. Molecular consequence: SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007301,MedGen:C0265342,OMIM:117650,Orphanet:1393. Review status: no assertion criteria provided.