ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)

gnomAD frequency: 0.00002  dbSNP: rs1005844306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796038 SCV000935529 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-07-11 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198372 SCV001369284 uncertain significance Developmental and epileptic encephalopathy, 2 2019-12-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. This variant was detected in hemizygous state.

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