ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter)

dbSNP: rs538989808
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV001731173 SCV001981600 pathogenic Hereditary spherocytosis type 1 no assertion criteria provided clinical testing

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