ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003444400 SCV004171292 uncertain significance Pyruvate kinase deficiency of red cells criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488799 SCV004236088 uncertain significance not provided 2023-02-04 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003444400 SCV004807122 pathogenic Pyruvate kinase deficiency of red cells 2024-03-26 criteria provided, single submitter clinical testing

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