ClinVar Miner

Submissions for variant NM_001220.5(CAMK2B):c.342-2A>G

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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 Leipzig Medical Center RCV002468870 SCV002765066 uncertain significance Intellectual disability, autosomal dominant 54 2024-08-15 criteria provided, single submitter clinical testing Criteria applied: PVS1_MOD,PM2

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