ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)

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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 RCV001004697 SCV001164160 likely pathogenic Developmental and epileptic encephalopathy, 14 2017-05-30 criteria provided, single submitter clinical testing

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