ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.1110+1G>C

dbSNP: rs1057519270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824907 SCV000965832 likely pathogenic Epileptic encephalopathy 2014-01-01 criteria provided, single submitter clinical testing
OMIM RCV000415589 SCV000493933 pathogenic Developmental and epileptic encephalopathy, 48 2020-11-10 no assertion criteria provided literature only

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