ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1668+519_1842del

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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 RCV004759672 SCV005368492 pathogenic Developmental and epileptic encephalopathy, 42 2023-11-30 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM2

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