ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)

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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 RCV003641373 SCV004543866 pathogenic KBG syndrome 2021-02-18 criteria provided, single submitter clinical testing

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