Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671940 | SCV000796982 | likely benign | Niemann-Pick disease, type C1 | 2018-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671940 | SCV001625092 | likely benign | Niemann-Pick disease, type C1 | 2024-01-24 | criteria provided, single submitter | clinical testing |