Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV003412557 | SCV004123240 | uncertain significance | Cornelia de Lange syndrome 5 | 2023-07-26 | criteria provided, single submitter | clinical testing | The HDAC8 c.296-13T>G variant occurs in an intron but is predicted to affect splicing. To our knowledge, this variant has not been reported in the peer-reviewed literature. It is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a de novo state. Based on the available evidence, the c.296-13T>G variant is classified as a variant of uncertain significance for Cornelia de Lange syndrome. |