ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1115del (p.Thr372fs)

dbSNP: rs2145972429
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001667869 SCV001890899 pathogenic Seizures, benign familial neonatal, 1 no assertion criteria provided clinical testing

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