Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000351337 | SCV000332463 | uncertain significance | not provided | 2015-07-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001055305 | SCV001219692 | benign | CHARGE association | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356366 | SCV002649792 | uncertain significance | Inborn genetic diseases | 2017-06-26 | criteria provided, single submitter | clinical testing | The p.R1943Q variant (also known as c.5828G>A), located in coding exon 28 of the CHD7 gene, results from a G to A substitution at nucleotide position 5828. The arginine at codon 1943 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002487186 | SCV002780096 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2021-10-19 | criteria provided, single submitter | clinical testing |