Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217143 | SCV001388976 | likely benign | Aicardi-Goutieres syndrome 5 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326554 | SCV004033885 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SAMHD1: BP4, BP7 |
Natera, |
RCV001836161 | SCV002090998 | uncertain significance | Aicardi Goutieres syndrome | 2021-01-13 | no assertion criteria provided | clinical testing |