ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.3187G>A (p.Glu1063Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003883482 SCV004698008 likely pathogenic Parenti-mignot neurodevelopmental syndrome 2024-03-05 criteria provided, single submitter clinical testing

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