ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.378-17del (rs61753982)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000202549 SCV000257509 benign Rett syndrome 2018-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168682 SCV000330972 benign not specified 2015-07-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000144110 SCV000609828 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing
RettBASE RCV000144110 SCV000189186 not provided not provided no assertion provided not provided
RettBASE RCV000168682 SCV000222412 benign not specified 2013-12-05 no assertion criteria provided curation
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000144110 SCV000804263 benign not provided 2015-04-03 no assertion criteria provided clinical testing

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