Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543050 | SCV000656557 | benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001785661 | SCV002028002 | uncertain significance | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Prevention |
RCV004543237 | SCV004795709 | likely benign | MUSK-related disorder | 2020-07-27 | 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). |