Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003593028 | SCV004282045 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2023-12-15 | criteria provided, single submitter | clinical testing | This variant, c.2330_2335dup, results in the insertion of 2 amino acid(s) of the LTBP3 protein (p.Ala777_Pro778dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |