ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) (rs41273519)

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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 Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris RCV000655918 SCV000777867 likely pathogenic Spherocytosis type 3 2018-02-27 criteria provided, single submitter clinical testing

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