ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.65-1G>A (rs1555940533)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498205 SCV000589919 pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing The c.65-1 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico models predict c.65-1 G>A destroys the canonical splice acceptor site in intron 2, and is expected to cause abnormal gene splicing.

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