Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000437488 | SCV000510780 | uncertain significance | not provided | 2016-07-29 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV001228685 | SCV001401097 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2023-04-12 | criteria provided, single submitter | clinical testing |