Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459593 | SCV004953279 | uncertain significance | Inborn genetic diseases | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.1726C>T (p.H576Y) alteration is located in exon 8 (coding exon 7) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 1726, causing the histidine (H) at amino acid position 576 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |