ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1134C>T (p.His378=)

dbSNP: rs1557135898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000660866 SCV000778496 likely benign Rett syndrome 2018-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001584521 SCV001811968 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing
Invitae RCV002530584 SCV003467336 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-03 criteria provided, single submitter clinical testing

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