ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) (rs267608626)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088957 SCV000556730 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
RettBASE RCV000132993 SCV000187979 benign not specified 2013-12-05 no assertion criteria provided curation
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000678237 SCV000804260 uncertain significance not provided 2015-04-03 no assertion criteria provided clinical testing

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