Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
IRCCS Fondazione Stella Maris, |
RCV001449644 | SCV001652710 | pathogenic | Charcot-Marie-Tooth disease type 4B3 | 2018-05-16 | no assertion criteria provided | clinical testing | SEVERE NEUROPATHY |