ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.781del (p.Thr261fs)

dbSNP: rs2059189334
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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 RCV001812268 SCV002060414 uncertain significance Developmental and epileptic encephalopathy, 42 2022-01-17 criteria provided, single submitter clinical testing

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