Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002752476 | SCV003580611 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.919A>C (p.N307H) alteration is located in exon 4 (coding exon 3) of the SLX4 gene. This alteration results from a A to C substitution at nucleotide position 919, causing the asparagine (N) at amino acid position 307 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |