Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500814 | SCV000596703 | likely benign | not specified | 2016-07-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314877 | SCV000849294 | uncertain significance | Inborn genetic diseases | 2017-04-04 | criteria provided, single submitter | clinical testing | The p.P259L variant (also known as c.776C>T), located in coding exon 1 of the RAI1 gene, results from a C to T substitution at nucleotide position 776. The proline at codon 259 is replaced by leucine, an amino acid with similar properties. This variant did not co-segregate with disease in 1 individual tested in our laboratory. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002056874 | SCV002329063 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing |