ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp)

dbSNP: rs864321706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000203589 SCV000258967 pathogenic Developmental and epileptic encephalopathy, 7 no assertion criteria provided clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315332 SCV004015094 not provided Complex neurodevelopmental disorder no assertion provided literature only

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