ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.702C>G (p.Val234=)

gnomAD frequency: 0.00002  dbSNP: rs61749735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645133 SCV000766875 benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-13 criteria provided, single submitter clinical testing
RettBASE RCV000133191 SCV000188189 benign not specified 2010-08-24 no assertion criteria provided curation

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