Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410072 | SCV000486147 | likely pathogenic | Niemann-Pick disease, type A | 2016-04-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763264 | SCV000893902 | likely pathogenic | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000410072 | SCV001163657 | pathogenic | Niemann-Pick disease, type A | criteria provided, single submitter | clinical testing |