Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000004416 | SCV001150117 | pathogenic | Charcot-Marie-Tooth disease recessive intermediate A | 2018-07-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004416 | SCV000024589 | pathogenic | Charcot-Marie-Tooth disease recessive intermediate A | 2003-03-01 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000789162 | SCV000928514 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV003447194 | SCV004174580 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2K | 2016-01-06 | no assertion criteria provided | literature only |