Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002663048 | SCV002986417 | uncertain significance | Exostoses, multiple, type 2 | 2022-08-30 | 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 EXT2-related conditions. This variant is present in population databases (rs760147479, gnomAD 0.0009%). This variant, c.899_910dup, results in the insertion of 4 amino acid(s) of the EXT2 protein (p.His303_Gln304insArgHisLysHis), but otherwise preserves the integrity of the reading frame. |
Baylor Genetics | RCV002663048 | SCV004192811 | uncertain significance | Exostoses, multiple, type 2 | 2023-08-18 | criteria provided, single submitter | clinical testing |