Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231269 | SCV000629573 | likely benign | Hereditary hemorrhagic telangiectasia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764537 | SCV002000212 | uncertain significance | not provided | 2020-01-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 458349; Landrum et al., 2016) |