ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.-391G>T

gnomAD frequency: 0.00632  dbSNP: rs191864898
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145512 SCV000192600 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001785476 SCV002028113 likely benign not provided 2021-05-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001785476 SCV005209108 likely benign not provided criteria provided, single submitter not provided
Centre for Population Genomics, CPG RCV004724920 SCV005335274 benign CDKL5 disorder 2024-06-28 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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD v3 is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1).
RettBASE RCV000145512 SCV000222266 benign not specified 2014-05-09 no assertion criteria provided curation Benign variation, found in normal male controls

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