Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000234917 | SCV000292227 | likely pathogenic | Charcot-Marie-Tooth disease type 2P | 2015-05-22 | criteria provided, single submitter | clinical testing | Charcot-Marie-Tooth disease type 2P has been reported by several publications to be caused by heterozygous or homozygous mutations in the LRSAM1 gene. Here we report a patient with suspicion of CMT disease type 2, harbouring a mutation which is predicted to affect the Zinc finger region of LRSAM1 protein. |
Ce |
RCV001171878 | SCV001334766 | pathogenic | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing |