ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)

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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 RCV004696604 SCV005196397 pathogenic Developmental and epileptic encephalopathy, 42 2024-08-15 criteria provided, single submitter clinical testing

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