ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2108T>G (p.Val703Gly)

dbSNP: rs1572706648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991199 SCV001142576 uncertain significance Developmental and epileptic encephalopathy, 69 2015-01-19 criteria provided, single submitter clinical testing

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