Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000760966 | SCV000890863 | pathogenic | Dermatofibrosis lenticularis disseminata | 2018-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003314642 | SCV004014383 | likely pathogenic | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | Reported in a patient with features of a LEMD3-related disorder in the published literature (Hellemans et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense 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; This variant is associated with the following publications: (PMID: 25525159, 16470551, 35022528) |