ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=)

dbSNP: rs1057519269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000415544 SCV000493932 pathogenic Developmental and epileptic encephalopathy, 48 2020-11-19 no assertion criteria provided literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824906 SCV000965831 likely pathogenic Epileptic encephalopathy no assertion criteria provided clinical testing

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