ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1550del (p.Phe517fs)

dbSNP: rs786204972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000170001 SCV000222307 pathogenic Atypical Rett syndrome 2014-05-15 no assertion criteria provided curation

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