Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003163074 | SCV003909489 | uncertain significance | Inborn genetic diseases | 2023-03-07 | criteria provided, single submitter | clinical testing | The c.7447G>A (p.V2483I) alteration is located in exon 16 (coding exon 15) of the APC gene. This alteration results from a G to A substitution at nucleotide position 7447, causing the valine (V) at amino acid position 2483 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
3DMed Clinical Laboratory Inc | RCV000677745 | SCV000803901 | uncertain significance | Neoplasm of stomach | 2017-04-21 | no assertion criteria provided | clinical testing |