ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) (rs786204313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000168699 SCV000595751 uncertain significance not specified 2017-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766082 SCV000897557 uncertain significance Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome; Autism, susceptibility to, X-linked 3 2018-10-31 criteria provided, single submitter clinical testing

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