ClinVar Miner

Submissions for variant NM_001142446.2(ANK1):c.5620C>T (p.Arg1874Ter) (rs137852831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris RCV000000539 SCV000777845 pathogenic Spherocytosis type 1 2018-02-27 criteria provided, single submitter clinical testing
OMIM RCV000000539 SCV000020688 pathogenic Spherocytosis type 1 1998-05-01 no assertion criteria provided literature only

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