Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606059 | SCV000712540 | uncertain significance | not specified | 2016-10-07 | criteria provided, single submitter | clinical testing | The c.2064-15G>T variant in SOS1 has not been previously reported in individuals with a RASopathy disorder, but has been identified in 1/10324 African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs746484679). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the c.2064-15G>T variant is uncertain. |
Labcorp Genetics |
RCV002065200 | SCV002437040 | likely benign | RASopathy | 2023-11-27 | criteria provided, single submitter | clinical testing |