Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000119328 | SCV000789754 | likely pathogenic | Niemann-Pick disease, type C1 | 2017-02-21 | criteria provided, single submitter | clinical testing | |
Shanghain Institute for Pediatric Research | RCV000119328 | SCV000154187 | pathogenic | Niemann-Pick disease, type C1 | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |