Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000009789 | SCV000030010 | pathogenic | Charcot-Marie-Tooth disease type 2D | 2009-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000009789 | SCV001760933 | not provided | Charcot-Marie-Tooth disease type 2D | no assertion provided | literature only | GARS1-HMSN (CMT2D & dSMA-V) [Abe & Hayasaka 2009, Griffin et al 2014] | |
Inherited Neuropathy Consortium Ii, |
RCV000009789 | SCV004174555 | uncertain significance | Charcot-Marie-Tooth disease type 2D | 2016-01-06 | no assertion criteria provided | literature only |