Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000612346 | SCV000713839 | uncertain significance | not specified | 2018-01-17 | criteria provided, single submitter | clinical testing | The c.424-5A>G variant in SPRED1 has not been previously reported in individuals with clinical features of RASopathy, but has been identified in 3/24030 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org; dbSNP rs752656697). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this informat ion is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.424-5A>G variant is uncertain. ACMG/AMP Criteria applied: BP7. |
Invitae | RCV001456359 | SCV001660137 | likely benign | Legius syndrome | 2023-04-25 | criteria provided, single submitter | clinical testing |