ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)

dbSNP: rs2144956340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274467 SCV002559192 likely pathogenic Developmental and epileptic encephalopathy, 42 criteria provided, single submitter clinical testing

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