Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000559299 | SCV000656169 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-12-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000559299 | SCV000895791 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001797105 | SCV002038918 | uncertain significance | not provided | 2021-11-24 | 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# 475876; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918) |
Revvity Omics, |
RCV001797105 | SCV003831172 | uncertain significance | not provided | 2019-05-03 | criteria provided, single submitter | clinical testing |