Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004212738 | SCV003709048 | uncertain significance | not specified | 2024-10-01 | criteria provided, single submitter | clinical testing | The c.98A>C (p.H33P) alteration is located in exon 2 (coding exon 1) of the IFI44L gene. This alteration results from a A to C substitution at nucleotide position 98, causing the histidine (H) at amino acid position 33 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |