Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004683761 | SCV005168971 | uncertain significance | not specified | 2024-04-09 | criteria provided, single submitter | clinical testing | The c.13A>G (p.S5G) alteration is located in exon 1 (coding exon 1) of the SLC44A1 gene. This alteration results from a A to G substitution at nucleotide position 13, causing the serine (S) at amino acid position 5 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |