ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1596del (p.Thr533fs)

dbSNP: rs1555952078
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659289 SCV000781093 likely pathogenic West syndrome 2016-11-01 criteria provided, single submitter clinical testing

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