ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.814C>G (p.Leu272Val)

gnomAD frequency: 0.00163  dbSNP: rs147659527
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812322 SCV001471250 uncertain significance not provided 2022-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334373 SCV001527201 uncertain significance Pyruvate kinase deficiency of red cells 2018-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001812322 SCV002541054 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing PP3, PM1
Revvity Omics, Revvity RCV001812322 SCV003808468 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing
Invitae RCV001812322 SCV004326599 likely benign not provided 2023-02-22 criteria provided, single submitter clinical testing

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