ClinVar Miner

Submissions for variant NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) (rs587783744)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715081 SCV000845906 benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168678 SCV000224306 benign not specified 2014-05-19 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000548811 SCV000746767 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000548811 SCV000645654 benign Severe neonatal-onset encephalopathy with microcephaly 2017-12-19 criteria provided, single submitter clinical testing
RettBASE RCV000168678 SCV000222619 benign not specified 2012-05-18 no assertion criteria provided curation

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