Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Division, |
RCV001527432 | SCV001738437 | pathogenic | Niemann-Pick disease, type A | 2021-04-25 | criteria provided, single submitter | research | |
Baylor Genetics | RCV001527432 | SCV004203211 | likely pathogenic | Niemann-Pick disease, type A | 2024-03-28 | criteria provided, single submitter | clinical testing |