ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.7543C>A (p.Leu2515Met)

dbSNP: rs2153065630
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001843825 SCV002102976 uncertain significance Developmental disorder 2021-08-02 criteria provided, single submitter clinical testing

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