Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000362321 | SCV000407891 | uncertain significance | Niemann-Pick disease, type C | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003605620 | SCV004550063 | likely benign | Niemann-Pick disease, type C1 | 2023-11-17 | criteria provided, single submitter | clinical testing |