Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001711476 | SCV000240899 | likely benign | not provided | 2019-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314714 | SCV000848256 | uncertain significance | Inborn genetic diseases | 2018-02-06 | criteria provided, single submitter | clinical testing | The p.R309H variant (also known as c.926G>A), located in coding exon 7 of the CTSD gene, results from a G to A substitution at nucleotide position 926. The arginine at codon 309 is replaced by histidine, an amino acid with highly similar properties. 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 | RCV000864860 | SCV001005727 | benign | Neuronal ceroid lipofuscinosis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144152 | SCV003828738 | uncertain significance | Neuronal ceroid lipofuscinosis 10 | 2020-03-04 | criteria provided, single submitter | clinical testing |