OBJECTIVES: In 2006 the ACMG made recommendations for NBS based on an entry point to an algorithm (EPA) it designed, determined by scoring a survey about attributes of various conditions. The EPA determined a set of follow up questions that led to final recommendations. This study examined one of these conditions - BIOPT BS - and assessed if the influence of uncertainty related to the missing survey responses and/or sampling variation for this condition might change scoring sufficiently to modify the EPA and the recommendation. METHODS:  This research explored the uncertainty relating to the missing data by using a boundary estimate (Manski, 1989), sampling variation uncertainty by bootstrapping, and their joint influence. We examined two questions of BIOPT BS (score, 1174) that ACMG reported data for: simplicity of therapy (SIMPLICITY) and confirmation of diagnosis (CONF). Total scores > 1200 indicate a new EPA and potentially a different NBS recommendation. RESULTS: The EPA did not change when estimating Manski bounds for SIMPLICITY (+/- = 5.1/1.6) and CONF had no missing values, so could not change. When bootstrapping the original data, and around the upper boundary SIMPLICITY estimate, the bootstrapped means implied that the EPA changed not at all or in only a very small percentage of cases (0. CONCLUSIONS: The score change from examining the uncertainty relating to missing data and sampling variation for the two questions ACMG reported for BIOPT BS condition is not sufficient to alter the EPA and potentially alter the recommendation. Further exploration of missing data for other questions is needed to fully assess the robustness of the ACMG recommendation.