Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002274917 | SCV002563564 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | EPCAM: BP1, BP4 |
Ambry Genetics | RCV002321607 | SCV002609128 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-05 | criteria provided, single submitter | clinical testing | The p.A107T variant (also known as c.319G>A), located in coding exon 3 of the EPCAM gene, results from a G to A substitution at nucleotide position 319. The alanine at codon 107 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |
Invitae | RCV000123187 | SCV000166492 | uncertain significance | Lynch syndrome | 2014-06-11 | no assertion criteria provided | clinical testing | The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines. |