ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) (rs61753966)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000132973 SCV000247944 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000132973 SCV000702635 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001701614 SCV000728730 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12872250, 11055898, 24715477, 23810759)
Invitae RCV000867045 SCV001008234 benign Severe neonatal-onset encephalopathy with microcephaly 2020-10-25 criteria provided, single submitter clinical testing
RettBASE RCV000132973 SCV000187957 benign not specified 2013-12-05 no assertion criteria provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701614 SCV001929956 likely benign not provided no assertion criteria provided clinical testing

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