Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tartaglia Lab, |
RCV001530944 | SCV001468536 | pathogenic | not provided | 2020-12-03 | criteria provided, single submitter | research | |
Gene |
RCV001530944 | SCV001770713 | uncertain significance | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 33596411) |