ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2094del (p.Glu699fs)

dbSNP: rs1926473501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001281084 SCV001451434 pathogenic Seizure 2020-12-21 criteria provided, single submitter clinical testing Truncating variant absent from gnomAD.

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