Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002687782 | SCV003552731 | uncertain significance | Inborn genetic diseases | 2022-05-18 | criteria provided, single submitter | clinical testing | The c.299C>T (p.T100I) alteration is located in exon 2 (coding exon 1) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 299, causing the threonine (T) at amino acid position 100 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |