Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607470 | SCV000712048 | uncertain significance | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | The p.Leu1542Val variant in NF1 has not been previously reported in individuals with a RASopathy disorder or in large population studies. Computational predicti on tools and conservation analysis suggest that this variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, the clinical significance of the p.Leu1542Val variant is uncertain . |
Gene |
RCV000681204 | SCV000808663 | uncertain significance | not provided | 2020-08-19 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32107864) |