Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418772 | SCV000516815 | pathogenic | not provided | 2015-04-22 | criteria provided, single submitter | clinical testing | The C128X nonsense variant in the NDP gene has been reported previously in association with Norriedisease (Wong et al., 1993; Schuback et al., 1995). This variant is predicted to cause loss of normal protein function through protein truncation. Therefore, we interpret this variant as pathogenic. |
EGL Genetic Diagnostics, |
RCV000418772 | SCV000700538 | pathogenic | not provided | 2016-10-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000011432 | SCV000031664 | pathogenic | Atrophia bulborum hereditaria | 1993-11-01 | no assertion criteria provided | literature only |