ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) (rs398123695)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080077 SCV000111972 uncertain significance not provided 2013-10-04 criteria provided, single submitter clinical testing
Dobyns Lab,Seattle Children's Research Institute RCV000779645 SCV000916322 likely pathogenic Early infantile epileptic encephalopathy 4; West syndrome; Cerebellar vermis hypoplasia 2019-02-18 no assertion criteria provided research

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