Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025752 | SCV001188002 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-03-07 | criteria provided, single submitter | clinical testing | The p.L229P variant (also known as c.686T>C), located in coding exon 6 of the ATM gene, results from a T to C substitution at nucleotide position 686. The leucine at codon 229 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Cancer Genomics Group, |
RCV001030517 | SCV001193465 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002479220 | SCV002774792 | uncertain significance | not provided | 2021-08-02 | criteria provided, single submitter | clinical testing |