Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001298097 | SCV001487140 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004692429 | SCV005187971 | uncertain significance | not provided | criteria provided, single submitter | not provided |