Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200288 | SCV001371206 | likely pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001200288 | SCV001783933 | pathogenic | not provided | 2020-04-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016) |