Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005339635 | SCV006005219 | uncertain significance | not specified | 2024-12-27 | criteria provided, single submitter | clinical testing | The c.321G>A (p.M107I) alteration is located in exon 3 (coding exon 3) of the FN3K gene. This alteration results from a G to A substitution at nucleotide position 321, causing the methionine (M) at amino acid position 107 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |