Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002971950 | SCV003286751 | benign | not provided | 2025-01-24 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Lab, |
RCV003883205 | SCV004697785 | likely benign | Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV004958896 | SCV005495563 | uncertain significance | Inborn genetic diseases | 2024-11-25 | criteria provided, single submitter | clinical testing | The c.1814C>A (p.T605N) alteration is located in exon 4 (coding exon 3) of the SETBP1 gene. This alteration results from a C to A substitution at nucleotide position 1814, causing the threonine (T) at amino acid position 605 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |