Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003287522 | SCV003986522 | uncertain significance | Inborn genetic diseases | 2023-05-24 | criteria provided, single submitter | clinical testing | The c.4852C>G (p.Q1618E) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a C to G substitution at nucleotide position 4852, causing the glutamine (Q) at amino acid position 1618 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |