A: The variant NC_000019.10:g.40512820CGCAGCGGG[3] in gene SPTBN4 is classified as 'Benign/Likely_benign' for not_provided|SPTBN4-related_disorder. Molecular consequence: SO:0001821: inframe_insertion. Variant type: Microsatellite. Disease database links: MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.