ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.746dup (p.Gly250fs) (rs61749743)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000133208 SCV000223846 pathogenic Rett syndrome criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000133208 SCV000537187 pathogenic Rett syndrome 2015-07-14 criteria provided, single submitter clinical testing Psychomotor arrest; Microcephaly; Partial epilepsy; Spasticity; Scoliosis; Hypercholesterolemia; Characteristic hand movements
RettBASE RCV000133208 SCV000188206 pathogenic Rett syndrome 2013-06-12 no assertion criteria provided curation

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