Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004018966 | SCV004895025 | uncertain significance | not specified | 2024-01-02 | criteria provided, single submitter | clinical testing | The c.1412G>A (p.G471E) alteration is located in exon 8 (coding exon 8) of the KRT8 gene. This alteration results from a G to A substitution at nucleotide position 1412, causing the glycine (G) at amino acid position 471 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
STRNAD Lab, |
RCV000049581 | SCV000082641 | not provided | Hepatitis C virus, susceptibility to | no assertion provided | not provided |