Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412331 | SCV000489560 | uncertain significance | Familial adenomatous polyposis 1 | 2016-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019012 | SCV001180315 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-10 | criteria provided, single submitter | clinical testing | The c.3179_3184delTAAAAC variant (also known as p.I1060_Q1062delinsK) is located in coding exon 15 of the APC gene. This variant results from an in-frame TAAAAC deletion at nucleotide positions 3179 to 3184, resulting in the deletion of three residues (IKQ) and insertion of a single lysine. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Myriad Genetics, |
RCV003316515 | SCV004018463 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-14 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |