ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) (rs1564357089)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wu Jinyu Laboratory, Institute of Genomic Medicine,Wenzhou Medical University RCV000721133 SCV000844979 pathogenic Early infantile epileptic encephalopathy 4 no assertion criteria provided clinical testing

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