ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)

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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 RCV002468895 SCV002765121 likely pathogenic Developmental and epileptic encephalopathy, 42 2022-12-07 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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