ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1225+78A>G

gnomAD frequency: 0.84631  dbSNP: rs12407563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554791 SCV001776097 benign Developmental and epileptic encephalopathy, 69 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615331 SCV001834411 benign not provided 2021-02-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615331 SCV005282392 benign not provided criteria provided, single submitter not provided

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