Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316745 | SCV000850439 | uncertain significance | Inborn genetic diseases | 2017-01-23 | criteria provided, single submitter | clinical testing | The p.R1810Q variant (also known as c.5429G>A), located in coding exon 25 of the CHD7 gene, results from a G to A substitution at nucleotide position 5429. The arginine at codon 1810 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001323810 | SCV001514740 | likely benign | CHARGE association | 2023-05-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585677 | SCV001819134 | likely benign | not provided | 2019-07-29 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |