ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.401T>A (p.Val134Asp)

gnomAD frequency: 0.00003  dbSNP: rs574051756
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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 RCV001702985 SCV002048372 likely pathogenic not provided 2020-10-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001702985 SCV003817581 pathogenic not provided 2023-12-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001702985 SCV004243305 likely pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702985 SCV001929806 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702985 SCV001958145 pathogenic not provided no assertion criteria provided clinical testing

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