ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr)

dbSNP: rs777257591
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000203593 SCV000258976 pathogenic Seizures, benign familial neonatal, 1 no assertion criteria provided clinical testing

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