Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000203260 | SCV000256750 | pathogenic | Charcot-Marie-Tooth disease type 4D | 2013-05-21 | criteria provided, single submitter | research | NDRG1 is a known gene causing recessive CMT4D. This study showed a homozygous intragenic duplication in NDRG1. |