Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005314916 | SCV005974670 | uncertain significance | not specified | 2025-01-08 | criteria provided, single submitter | clinical testing | The c.1816G>A (p.D606N) alteration is located in exon 16 (coding exon 16) of the CCNF gene. This alteration results from a G to A substitution at nucleotide position 1816, causing the aspartic acid (D) at amino acid position 606 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |