ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)

dbSNP: rs1674554041
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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 RCV001534615 SCV001469086 likely pathogenic Pyruvate kinase deficiency of red cells 2018-11-28 criteria provided, single submitter clinical testing

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