Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003032581 | SCV003334670 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2022-03-20 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1080_1085dup, results in the insertion of 2 amino acid(s) of the LTBP3 protein (p.Met361_Pro362dup), but otherwise preserves the integrity of the reading frame. |