ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) (rs61749713)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000133167 SCV000230277 benign not specified 2015-04-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000133167 SCV000247979 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000533995 SCV000645670 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720795 SCV000851678 benign History of neurodevelopmental disorder 2017-05-08 criteria provided, single submitter clinical testing
Mendelics RCV000990999 SCV001142087 benign Rett syndrome 2019-05-28 criteria provided, single submitter clinical testing
RettBASE RCV000133167 SCV000188160 benign not specified 2011-03-29 no assertion criteria provided curation

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