Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537321 | SCV000656562 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001093096 | SCV001249919 | likely benign | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530576 | SCV004730536 | likely benign | MUSK-related disorder | 2020-08-06 | 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). |