Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652108 | SCV000773976 | benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507124 | SCV002810097 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 | 2022-05-17 | criteria provided, single submitter | clinical testing |