Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004831992 | SCV005457126 | uncertain significance | not specified | 2024-10-12 | criteria provided, single submitter | clinical testing | The c.205A>G (p.N69D) alteration is located in exon 3 (coding exon 3) of the NETO2 gene. This alteration results from a A to G substitution at nucleotide position 205, causing the asparagine (N) at amino acid position 69 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |