ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.603T>C (p.Leu201=)

gnomAD frequency: 0.00006  dbSNP: rs763478005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438946 SCV001641827 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-08-22 criteria provided, single submitter clinical testing
GeneDx RCV001647293 SCV001856076 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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