ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1050C>T (p.Thr350=)

dbSNP: rs267608400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764875 SCV004688207 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-02-22 criteria provided, single submitter clinical testing
RettBASE RCV000132829 SCV000187806 not provided not provided no assertion provided not provided

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