ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.283-13A>G

gnomAD frequency: 0.00011  dbSNP: rs587783404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003235065 SCV003933682 benign CDKL5 disorder 2023-04-14 reviewed by expert panel curation The allele frequency of the c.283-13 A>G variant in CDKL5 is 0.036% in Latino sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.283-13 A>G variant in CDKL5 is classified as benign based on the ACMG/AMP criteria (BA1).
Genetic Services Laboratory, University of Chicago RCV000145538 SCV000192627 uncertain significance Developmental and epileptic encephalopathy, 2 2013-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001704067 SCV000714518 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055877 SCV002423204 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-01-12 criteria provided, single submitter clinical testing

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