ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)

dbSNP: rs2512759310
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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 Goettingen RCV002280918 SCV002569092 uncertain significance Developmental and epileptic encephalopathy, 42 2022-09-02 criteria provided, single submitter clinical testing

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