Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092021 | SCV001248356 | pathogenic | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000201522 | SCV002579205 | likely pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W | 2022-07-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000201522 | SCV000256221 | pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W | 2015-08-01 | no assertion criteria provided | literature only |