ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.107A>G (p.His36Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004786001 SCV005401100 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22779007)

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