Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875386 | SCV001017703 | benign | Severe X-linked myotubular myopathy | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938357 | SCV004761072 | likely benign | MTM1-related condition | 2022-07-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000875386 | SCV002084541 | likely benign | Severe X-linked myotubular myopathy | 2021-09-29 | no assertion criteria provided | clinical testing |