Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Amrita Institute of Medical Sciences and Research Centre, |
RCV004701234 | SCV005205819 | uncertain significance | Familial hypercholesterolemia | 2023-08-03 | no assertion criteria provided | clinical testing | This is a novel mutation in exon 4 of APOE gene. |