Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878532 | SCV001021453 | likely benign | Familial infantile myasthenia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000878532 | SCV003833244 | uncertain significance | Familial infantile myasthenia | 2023-02-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908367 | SCV004718839 | likely benign | CHAT-related disorder | 2023-02-15 | 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). |