ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)

gnomAD frequency: 0.00001  dbSNP: rs1926294168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002085272 SCV002377863 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-02-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147738 SCV003836182 uncertain significance Developmental and epileptic encephalopathy, 2 2022-02-16 criteria provided, single submitter clinical testing

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