Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595903 | SCV000705849 | uncertain significance | not provided | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530696 | SCV004739547 | likely pathogenic | FBN1-related disorder | 2024-03-01 | criteria provided, single submitter | clinical testing | The FBN1 c.4172G>T variant is predicted to result in the amino acid substitution p.Cys1391Phe. This variant was reported within individuals presenting with Marfan syndrome, however inheritance information was not provided (Rybczynski et al. 2008. PubMed ID: 19012347; Supplementary Data, Stark et al. 2020. PubMed ID: 32679894). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |