ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr)

dbSNP: rs1564286708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab, Seattle Children's Research Institute RCV000779644 SCV000916321 pathogenic Developmental and epileptic encephalopathy, 5 2019-02-18 no assertion criteria provided research

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