ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser)

gnomAD frequency: 0.00002  dbSNP: rs267608622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003638625 SCV004506642 benign Severe neonatal-onset encephalopathy with microcephaly 2023-09-08 criteria provided, single submitter clinical testing
RettBASE RCV000132984 SCV000187968 benign not specified 2011-03-29 no assertion criteria provided curation

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