ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter)

dbSNP: rs17857094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000170023 SCV000222330 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation Truncation causing loss of C-terminus including potential nuclear export signal, also not in 1000 genomes or ESP

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