Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413695 | SCV000492205 | uncertain significance | not provided | 2023-02-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Acke et al., 2014; HGMD); In silico analysis supports that this missense variant does not alter protein structure/function |
Invitae | RCV000413695 | SCV001504350 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing |