Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655259 | SCV000777189 | likely benign | Adams-Oliver syndrome 5 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002509228 | SCV002818882 | uncertain significance | not provided | 2023-01-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with a NOTCH1-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 24728327) |
ITMI | RCV000121678 | SCV000085876 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |