ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2298-97C>T

gnomAD frequency: 0.43240  dbSNP: rs2280865
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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 RCV001554793 SCV001776099 benign Developmental and epileptic encephalopathy, 69 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658294 SCV001872007 benign not provided 2021-03-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658294 SCV005282406 benign not provided criteria provided, single submitter not provided

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