Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000790754 | SCV000226009 | pathogenic | not provided | 2012-07-23 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000174669 | SCV000596046 | pathogenic | Niemann-Pick disease type C1 | 2016-03-21 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000174669 | SCV001149857 | pathogenic | Niemann-Pick disease type C1 | 2019-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000174669 | SCV001225308 | pathogenic | Niemann-Pick disease type C1 | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro733Serfs*10) in the NPC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398123284, ExAC 0.002%). This variant has been observed in individual(s) with Niemann-Pick disease type C (PMID: 27250337). ClinVar contains an entry for this variant (Variation ID: 92706). Loss-of-function variants in NPC1 are known to be pathogenic (PMID: 9211850). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000174669 | SCV000486819 | pathogenic | Niemann-Pick disease type C1 | 2016-08-18 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000174669 | SCV001455866 | pathogenic | Niemann-Pick disease type C1 | 2020-09-16 | no assertion criteria provided | clinical testing |