ClinVar Miner

Submissions for variant NM_001142446.2(ANK1):c.1900-17G>A (rs786205243)

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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 RCV000655898 SCV000777846 pathogenic Spherocytosis type 1 2018-02-27 criteria provided, single submitter clinical testing
OMIM RCV000000542 SCV000020691 pathogenic Spherocytosis, type 1, autosomal recessive 2007-06-15 no assertion criteria provided literature only

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