Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688402 | SCV000816012 | likely benign | Intellectual disability, autosomal dominant 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317916 | SCV000851410 | uncertain significance | Inborn genetic diseases | 2016-12-28 | criteria provided, single submitter | clinical testing | The p.V338M variant (also known as c.1012G>A), located in coding exon 7 of the GRIN1 gene, results from a G to A substitution at nucleotide position 1012. The valine at codon 338 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is 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. |
Mayo Clinic Laboratories, |
RCV001508287 | SCV001714341 | uncertain significance | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508287 | SCV001814176 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing |