Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004626029 | SCV005117583 | uncertain significance | not specified | 2024-05-20 | criteria provided, single submitter | clinical testing | The c.2509G>A (p.A837T) alteration is located in exon 22 (coding exon 21) of the FNDC3A gene. This alteration results from a G to A substitution at nucleotide position 2509, causing the alanine (A) at amino acid position 837 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |