Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459600 | SCV004953294 | uncertain significance | Inborn genetic diseases | 2024-02-17 | criteria provided, single submitter | clinical testing | The c.4126C>T (p.H1376Y) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 4126, causing the histidine (H) at amino acid position 1376 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |