Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818667 | SCV000959292 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002255168 | SCV002526542 | uncertain significance | not provided | 2022-06-20 | 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; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 661281; ClinVar); This variant is associated with the following publications: (PMID: 26582918) |
Revvity Omics, |
RCV002255168 | SCV003833352 | uncertain significance | not provided | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002255168 | SCV004159767 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | COL12A1: PM2 |