Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Biologia Molecular - |
RCV001293456 | SCV001443102 | likely pathogenic | Noonan syndrome-like disorder with loose anagen hair 2 | 2020-08-28 | criteria provided, single submitter | clinical testing | This variant is not identified in the databases, including ExAC, 1000genomes, or HGVD. It is described in a family were the mother and three children with Noonan syndrome with loose anagen hair phenotype harbored the variant. The variant c.548A>C (p.Glu183Ala) was previously described as pathogenic. |
Gene |
RCV002282501 | SCV002571342 | uncertain significance | not provided | 2022-01-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33491856) |
Service de Génétique Moléculaire, |
RCV001251212 | SCV001426697 | likely pathogenic | Noonan syndrome | no assertion criteria provided | clinical testing |