Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005339700 | SCV006007008 | uncertain significance | not specified | 2025-01-22 | criteria provided, single submitter | clinical testing | The c.2107C>T (p.P703S) alteration is located in exon 19 (coding exon 18) of the FNDC3A gene. This alteration results from a C to T substitution at nucleotide position 2107, causing the proline (P) at amino acid position 703 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |