Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003886436 | SCV004704447 | pathogenic | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | GJB1: PP1:Strong, PVS1:Strong, PM2, PP4, PS4:Supporting |
Inherited Neuropathy Consortium | RCV000789931 | SCV000929316 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV003447296 | SCV004174723 | uncertain significance | Charcot-Marie-Tooth disease X-linked dominant 1 | 2016-01-06 | no assertion criteria provided | literature only |