ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.-440G>T

gnomAD frequency: 0.00040  dbSNP: rs777401314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003436966 SCV004166646 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CDKL5: BS2
RettBASE RCV000170063 SCV000222372 uncertain significance Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation No parental testing, unreported SNP

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