Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005313644 | SCV005969323 | uncertain significance | not specified | 2025-01-09 | criteria provided, single submitter | clinical testing | The c.1964G>C (p.S655T) alteration is located in exon 7 (coding exon 7) of the ZC3H3 gene. This alteration results from a G to C substitution at nucleotide position 1964, causing the serine (S) at amino acid position 655 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |