Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001950574 | SCV002221677 | benign | Adams-Oliver syndrome 5 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003234142 | SCV003930874 | uncertain significance | not provided | 2023-06-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign in association with a NOTCH1-related disorder to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33247628) |