ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)

dbSNP: rs2132884703
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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 RCV001534611 SCV001469082 likely pathogenic Hemolytic anemia due to hexokinase deficiency 2018-03-29 criteria provided, single submitter clinical testing

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