ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.555-19C>G (rs75057928)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080075 SCV000111970 benign not specified 2012-12-04 criteria provided, single submitter clinical testing
RettBASE RCV000144140 SCV000189217 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000080075 SCV000192635 likely benign not specified no assertion criteria provided clinical testing
RettBASE RCV000080075 SCV000222272 benign not specified 2014-05-09 no assertion criteria provided curation Found in unaffected family members, likely to be rare polymorphism; shown in Nemos et al 2009 to have no effect on splicing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000080075 SCV000256042 benign not specified 2015-02-13 no assertion criteria provided clinical testing

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