SERPINC1 and hereditary antithrombin deficiency: Because current molecular diagnostic algorithms terminate once a potential causative defect is detected in SERPINC1 after sequencing, SVs are not evaluated in cases with a pathogenic or probably pathogenic SNV or INDEL identified by sequencing methods, particularly if segregation analysis in family studies supports a link between the SERPINC1 mutation and antithrombin deficiency [4,6].