ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3437del (p.Val1146fs)

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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 RCV004759513 SCV005368101 pathogenic Developmental and epileptic encephalopathy, 42 2024-06-17 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_MOD

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