ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del)

dbSNP: rs267608371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342919 SCV001536871 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2021-08-13 criteria provided, single submitter clinical testing
RettBASE RCV000132857 SCV000187836 not provided not provided no assertion provided not provided

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