Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036304 | SCV001199659 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148915 | SCV003837160 | uncertain significance | not provided | 2023-01-26 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ce |
RCV003148915 | SCV004185369 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing |