ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)

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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 RCV002280233 SCV002568216 likely pathogenic Developmental and epileptic encephalopathy, 30 2022-06-15 criteria provided, single submitter clinical testing PVS1 PM2

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