Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000761960 | SCV000892188 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SLC4A1: PVS1, PM2, PP1 |
Revvity Omics, |
RCV000761960 | SCV003815255 | likely pathogenic | not provided | 2023-01-16 | criteria provided, single submitter | clinical testing |