Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441031 | SCV000534576 | uncertain significance | not provided | 2021-12-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 391494; Landrum et al., 2016) |
Invitae | RCV000798902 | SCV000938544 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000441031 | SCV001502513 | uncertain significance | not provided | 2020-08-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000441031 | SCV003832826 | uncertain significance | not provided | 2022-01-15 | criteria provided, single submitter | clinical testing |