Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004686036 | SCV005179340 | uncertain significance | not specified | 2024-03-29 | criteria provided, single submitter | clinical testing | The c.6563G>A (p.G2188E) alteration is located in exon 35 (coding exon 34) of the ZAN gene. This alteration results from a G to A substitution at nucleotide position 6563, causing the glycine (G) at amino acid position 2188 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |