ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)

dbSNP: rs2139555500
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Total submissions: 2
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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 RCV001534600 SCV001469071 pathogenic Hereditary spherocytosis type 2 2019-07-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507846 SCV001713665 likely pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing PVS1, PM2

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