Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002622359 | SCV002969704 | uncertain significance | not provided | 2022-04-25 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the DNASE1L3 gene. It does not directly change the encoded amino acid sequence of the DNASE1L3 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DNASE1L3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Fulgent Genetics, |
RCV005032362 | SCV005664754 | uncertain significance | Autosomal systemic lupus erythematosus type 16 | 2024-02-07 | criteria provided, single submitter | clinical testing |