ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)

gnomAD frequency: 0.00002  dbSNP: rs1356745875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002090856 SCV002379337 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-05-18 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290848 SCV002579759 uncertain significance Developmental and epileptic encephalopathy, 2 2021-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438938 SCV004166650 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing CDKL5: PM2

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