ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.296-13T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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.

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