Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000382642 | SCV000377737 | likely benign | Noonan syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520594 | SCV001729727 | benign | RASopathy | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000860174 | SCV001935175 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24552817, 25961464, 26535719) |
Genome Diagnostics Laboratory, |
RCV001813239 | SCV002060520 | benign | Noonan syndrome and Noonan-related syndrome | 2021-07-13 | criteria provided, single submitter | clinical testing |