ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1777del (p.Ser593fs) (rs1064793376)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487187 SCV000565953 pathogenic not provided 2015-03-12 criteria provided, single submitter clinical testing The c.1777delT variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. Although this deletion has not been previously reported to our knowledge, we interpret this variant as pathogenic.

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