Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001521918 | SCV001731339 | benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541974 | SCV004788705 | likely benign | MUSK-related disorder | 2019-08-08 | 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). |