Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690474 | SCV000818160 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000690474 | SCV000895784 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144506 | SCV003833381 | uncertain significance | not provided | 2021-09-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003144506 | SCV003933424 | uncertain significance | not provided | 2023-05-30 | 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 |