ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.2647del (p.Leu883fs)

dbSNP: rs2139592237
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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 RCV001534604 SCV001469075 pathogenic Hereditary spherocytosis type 2 2019-01-23 criteria provided, single submitter clinical testing

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