Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001485094 | SCV001689521 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533854 | SCV004716572 | likely benign | MUSK-related disorder | 2022-02-03 | 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). |