ClinVar Miner

Submissions for variant NM_014712.3(SETD1A):c.2825del (p.Pro942fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003128089 SCV003804228 pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 2023-02-21 criteria provided, single submitter clinical testing

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