Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686474 | SCV000813993 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584554 | SCV001819501 | uncertain significance | not provided | 2023-05-01 | 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 does not alter protein structure/function |
Fulgent Genetics, |
RCV000686474 | SCV002782963 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2021-10-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001584554 | SCV003833306 | uncertain significance | not provided | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001584554 | SCV004159775 | uncertain significance | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | COL12A1: PM2 |