A: The variant NC_000019.10:g.40506368C>T in gene SPTBN4 is classified as 'Uncertain_significance' for Neurodevelopmental_disorder_with_hypotonia,_neuropathy,_and_deafness|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0060496,MedGen:C4479603,OMIM:617519|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.