ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1203T>A (p.Pro401=)

dbSNP: rs1469109249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432371 SCV001635140 likely benign Severe neonatal-onset encephalopathy with microcephaly 2022-08-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597926 SCV005092133 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MECP2: BP4, BP7

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