Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000210693 | SCV000262939 | pathogenic | Inborn genetic diseases | criteria provided, single submitter | clinical testing | Overall WES conclusion for patient, including all identified alterations: POSITIVE: Relevant Alteration(s) Detected | |
Invitae | RCV001378535 | SCV001576122 | likely pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-08-27 | criteria provided, single submitter | clinical testing |