Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000296554 | SCV000407875 | uncertain significance | Niemann-Pick disease, type C | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002056651 | SCV002432873 | likely benign | Niemann-Pick disease, type C1 | 2024-01-29 | criteria provided, single submitter | clinical testing |