ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2747G>A (p.Trp916Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV005233596 SCV005874328 likely pathogenic Developmental and epileptic encephalopathy, 42 2024-07-30 criteria provided, single submitter clinical testing PVS1, PM2

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