ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1154del (p.Phe385fs)

dbSNP: rs879253767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000234961 SCV000292252 pathogenic Developmental and epileptic encephalopathy, 11 2015-07-02 no assertion criteria provided clinical testing The variant c.1154delT is not reported in 1000 Genomes Database but found to be pathogenic by online software Mutation Taster.

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