Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027037 | SCV001189535 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-02-20 | criteria provided, single submitter | clinical testing | The p.V27F variant (also known as c.79G>T), located in coding exon 2 of the ATM gene, results from a G to T substitution at nucleotide position 79. The valine at codon 27 is replaced by phenylalanine, 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002298849 | SCV002598658 | uncertain significance | not specified | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832364 | SCV002090210 | uncertain significance | Ataxia-telangiectasia syndrome | 2020-08-12 | no assertion criteria provided | clinical testing |