ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.414-42A>G

gnomAD frequency: 0.00001  dbSNP: rs786205893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics RCV000172867 SCV000223854 likely benign Rett syndrome criteria provided, single submitter clinical testing

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