Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Genetic Testing Laboratories, |
RCV000660448 | SCV000782541 | likely pathogenic | Niemann-Pick disease type C1 | 2016-12-01 | criteria provided, single submitter | clinical testing |