Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434487 | SCV000513253 | uncertain significance | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | Has been reported as a variant of uncertain significance in an individual with Noonan syndrome (Leach et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 29907801, 30050098) |
Invitae | RCV000637302 | SCV000758753 | likely benign | Costello syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing |