ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.414-3C>T (rs267608465)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625805 SCV000746360 likely pathogenic Rett syndrome 2017-12-03 criteria provided, single submitter clinical testing
Invitae RCV001034244 SCV001197576 benign Severe neonatal-onset encephalopathy with microcephaly 2019-06-17 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001034244 SCV001432388 pathogenic Severe neonatal-onset encephalopathy with microcephaly no assertion criteria provided clinical testing

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