Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500168 | SCV000597378 | uncertain significance | not specified | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000864618 | SCV001005441 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000864618 | SCV001804311 | likely benign | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341188 | SCV002640192 | uncertain significance | Inborn genetic diseases | 2019-02-23 | criteria provided, single submitter | clinical testing | The p.R1519H variant (also known as c.4556G>A), located in coding exon 31 of the SZT2 gene, results from a G to A substitution at nucleotide position 4556. The arginine at codon 1519 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other 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. |
New York Genome Center | RCV001255057 | SCV001431148 | uncertain significance | Seizure | 2020-01-24 | no assertion criteria provided | clinical testing |