ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser)

dbSNP: rs786205894
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Total submissions: 2
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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 RCV000172869 SCV000223857 uncertain significance Rett syndrome criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457648 SCV004184959 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing MECP2: PM2, PM5

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