Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Programa de Pós- |
RCV000020443 | SCV000223901 | pathogenic | Spondylocarpotarsal synostosis syndrome | 2015-04-01 | criteria provided, single submitter | research | |
Institute Of Human Genetics Munich, |
RCV000020443 | SCV001150104 | pathogenic | Spondylocarpotarsal synostosis syndrome | 2019-05-27 | criteria provided, single submitter | clinical testing | |
DASA | RCV002298447 | SCV002588783 | pathogenic | FLNB-Related Spectrum Disorders | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.1945C>T;p.Arg649* variant creates a premature translational stop signal in the FLNB gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 21280; PMID: 26380986) - PS4. The variant is present at low allele frequencies population databases (rs80356517 – gnomAD 0.00003983%; ABraOM 0.000427 frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic. |
Gene |
RCV000020443 | SCV000040859 | not provided | Spondylocarpotarsal synostosis syndrome | no assertion provided | literature only |