Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000337999 | SCV000476618 | uncertain significance | Congenital Myasthenic Syndrome, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000556773 | SCV000656587 | benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902422 | SCV004720188 | likely benign | MUSK-related condition | 2019-08-06 | 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). |