ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1511G>A (p.Arg504His)

dbSNP: rs185753709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714615 SCV000845326 likely pathogenic Pyruvate kinase deficiency of red cells 2018-08-07 criteria provided, single submitter clinical testing

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