Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001969296 | SCV002256677 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2022-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003329427 | SCV004036616 | uncertain significance | not provided | 2023-03-24 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |