ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln)

gnomAD frequency: 0.00002  dbSNP: rs369183199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508434 SCV000604837 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133292 SCV003808464 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing
Watson Genetic Lab RCV004554794 SCV005043794 pathogenic Pyruvate kinase deficiency of red cells criteria provided, single submitter clinical testing

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