ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) (rs122460157)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000585869 SCV000693764 likely pathogenic Early infantile epileptic encephalopathy 2 2018-01-01 criteria provided, single submitter clinical testing

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