ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp)

dbSNP: rs1361083258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623627 SCV000741978 uncertain significance Inborn genetic diseases 2016-12-05 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849413 SCV002106532 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-11-01 no assertion criteria provided literature only

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