ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1060C>A (p.Pro354Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003523388 SCV004299162 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-10-18 criteria provided, single submitter clinical testing

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