Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795337 | SCV000934793 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548162 | SCV001768023 | uncertain significance | not provided | 2021-07-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 641970; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function |