ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314126 SCV004013247 pathogenic Intellectual disability, autosomal dominant 20 2023-05-31 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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