ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5494_5495del (p.Arg1832fs)

dbSNP: rs2151743944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526540 SCV001736963 pathogenic KBG syndrome criteria provided, single submitter clinical testing

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