Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187650 | SCV000241247 | uncertain significance | not provided | 2020-04-02 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002433844 | SCV002749774 | uncertain significance | Inborn genetic diseases | 2019-07-31 | criteria provided, single submitter | clinical testing | The p.M934T variant (also known as c.2801T>C), located in coding exon 12 of the GRIN2A gene, results from a T to C substitution at nucleotide position 2801. The methionine at codon 934 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002485270 | SCV002782037 | uncertain significance | Landau-Kleffner syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing |