ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.65-4A>G

gnomAD frequency: 0.00001  dbSNP: rs777490768
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Total submissions: 3
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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 RCV001507062 SCV001712031 uncertain significance CDKL5 disorder 2023-10-13 reviewed by expert panel curation The c.65-4A>G variant in CDKL5 is present in 1 XX individual in gnomAD (does not meet BS1 based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.65-4A>G in CDKL5 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BP4).
Genetic Services Laboratory, University of Chicago RCV000502023 SCV000593960 uncertain significance not specified 2016-03-14 criteria provided, single submitter clinical testing
Invitae RCV002527221 SCV003323676 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-03-09 criteria provided, single submitter clinical testing

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