ClinVar Miner

Submissions for variant NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter)

dbSNP: rs2132786873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001728163 SCV002764966 pathogenic Developmental and epileptic encephalopathy 97 2020-11-13 criteria provided, single submitter clinical testing
OMIM RCV001728163 SCV001976609 pathogenic Developmental and epileptic encephalopathy 97 2021-10-06 no assertion criteria provided literature only

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