Fig. 1

Presence/absence of total and causative variants in databases. Circles represent total numbers of tier 1 (left) and tier 2 (right) variants (not to scale), their presence in the HGMD professional and/or ClinVar databases (in DBs) or their absence from both databases (not in DBs) at the moment of case evaluation, and the distribution of the 32 variants considered causative of HL within these categories