Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186059 | SCV000239023 | pathogenic | not provided | 2013-08-26 | criteria provided, single submitter | clinical testing | The L281S missense mutation has been reported previously in association with MMA (Worgan et al., 2006). The variant is found in MUT panel(s). |