ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.145+5AT[13]

dbSNP: rs745969938
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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 RCV000477001 SCV000558809 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692135 SCV001915058 benign not provided 2019-08-21 criteria provided, single submitter clinical testing

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