ClinVar Miner

Submissions for variant NC_000023.11:g.18587953GC[1]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV005054052 SCV005687560 likely pathogenic CDKL5 disorder 2024-12-12 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD (PM2_Supporting). Has been observed in at least 1 individual with phenotypes consistent with CDKL5 disorder (PMID: 25657822).

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