Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000928616 | SCV001074229 | likely benign | Niemann-Pick disease, type C1 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003413730 | SCV004140862 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | NPC1: BP4, BP7 |
Natera, |
RCV000928616 | SCV001463707 | likely benign | Niemann-Pick disease, type C1 | 2020-05-04 | no assertion criteria provided | clinical testing |