Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703971 | SCV000832902 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000703971 | SCV000897313 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002305531 | SCV002599951 | uncertain significance | not provided | 2023-02-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign in association with COL12A1-related myopathies to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28407358, 34011629, 31785789, 25363768) |
Revvity Omics, |
RCV002305531 | SCV003833357 | uncertain significance | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing |