Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827641 | SCV000969299 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002372373 | SCV002624834 | uncertain significance | Inborn genetic diseases | 2018-09-13 | criteria provided, single submitter | clinical testing | The p.P1307S variant (also known as c.3919C>T), located in coding exon 12 of the GRIN2A gene, results from a C to T substitution at nucleotide position 3919. The proline at codon 1307 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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 | RCV002538265 | SCV003242335 | likely benign | Landau-Kleffner syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing |