Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000876429 | SCV001019000 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001288241 | SCV001475212 | likely benign | not provided | 2019-12-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541752 | SCV004790179 | likely benign | MUSK-related disorder | 2019-03-05 | 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). |