ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6600+5G>T

dbSNP: rs1462060431
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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 RCV000655916 SCV000777865 likely pathogenic Familial hemolytic anemia 2018-02-27 criteria provided, single submitter clinical testing

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