Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000662135 | SCV000784478 | uncertain significance | Aicardi-Goutieres syndrome 7 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000662136 | SCV000784479 | uncertain significance | Singleton-Merten syndrome 1 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000688834 | SCV000816458 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-01-15 | criteria provided, single submitter | clinical testing |