Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004414078 | SCV004892523 | uncertain significance | not specified | 2023-12-14 | criteria provided, single submitter | clinical testing | The c.3283C>G (p.P1095A) alteration is located in exon 12 (coding exon 12) of the KIF26A gene. This alteration results from a C to G substitution at nucleotide position 3283, causing the proline (P) at amino acid position 1095 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |