Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005297677 | SCV005971176 | uncertain significance | not specified | 2025-01-01 | criteria provided, single submitter | clinical testing | The c.207T>G (p.N69K) alteration is located in exon 4 (coding exon 3) of the ZNF510 gene. This alteration results from a T to G substitution at nucleotide position 207, causing the asparagine (N) at amino acid position 69 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |