Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009078 | SCV001168888 | likely pathogenic | not provided | 2019-11-19 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV003467588 | SCV004205934 | likely pathogenic | Progressive sclerosing poliodystrophy | 2022-10-12 | criteria provided, single submitter | clinical testing |