ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs)

dbSNP: rs2150635518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano RCV001534606 SCV001469077 pathogenic Hereditary spherocytosis type 1 2019-07-08 criteria provided, single submitter clinical testing

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