Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001397388 | SCV001599135 | likely benign | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2020-06-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279281 | SCV001466364 | uncertain significance | Sphingomyelin/cholesterol lipidosis | 2020-04-14 | no assertion criteria provided | clinical testing |