ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.855del (p.Phe285fs)

dbSNP: rs2109626303
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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 RCV002210941 SCV002496166 pathogenic Developmental and epileptic encephalopathy, 78 no assertion criteria provided clinical testing

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