Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002214305 | SCV002497230 | uncertain significance | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002337408 | SCV002644114 | uncertain significance | Inborn genetic diseases | 2022-06-02 | criteria provided, single submitter | clinical testing | The p.S1693N variant (also known as c.5078G>A), located in coding exon 29 of the ATR gene, results from a G to A substitution at nucleotide position 5078. The serine at codon 1693 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Genome- |
RCV003126201 | SCV003801488 | uncertain significance | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126202 | SCV003801489 | uncertain significance | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing |