Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004870581 | SCV005502823 | uncertain significance | not specified | 2024-07-26 | criteria provided, single submitter | clinical testing | The c.296A>G (p.N99S) alteration is located in exon 4 (coding exon 4) of the SLC44A1 gene. This alteration results from a A to G substitution at nucleotide position 296, causing the asparagine (N) at amino acid position 99 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |