Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993501 | SCV001146520 | uncertain significance | not provided | 2018-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000993501 | SCV001765555 | uncertain significance | not provided | 2019-04-19 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function |