Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220247 | SCV000272338 | uncertain significance | not specified | 2015-05-20 | criteria provided, single submitter | clinical testing | The c.1713-5T>A variant in PTPN11 has not been reported in individuals with card iomyopathy or in large population studies. This variant is located in the 3' spl ice region and computational tools do not suggest an impact to splicing. However , this information is not predictive enough to rule out pathogenicity. In summar y, the clinical significance of the c.1713-5T>A variant is uncertain. |
Invitae | RCV002057175 | SCV002423900 | likely benign | RASopathy | 2021-03-23 | criteria provided, single submitter | clinical testing |