Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000413103 | SCV000332997 | pathogenic | not provided | 2015-07-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000413103 | SCV000490669 | pathogenic | not provided | 2015-11-10 | criteria provided, single submitter | clinical testing | The c.3246-2 A>G splice site variant in the NPC1 gene has been previously reported in association with Niemann-Pick disease, type C (NPC) (Kluenemann et al., 2013). This pathogenic variant destroys the canonical splice acceptor site in intron 21, and is expected to cause abnormal gene splicing. We interpret c.3246-2 A>G to be a pathogenic variant. |
Genetic Services Laboratory, |
RCV000295010 | SCV000596043 | pathogenic | Niemann-Pick disease type C1 | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000295010 | SCV001132259 | likely pathogenic | Niemann-Pick disease type C1 | 2015-04-22 | no assertion criteria provided | clinical testing |