ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)

gnomAD frequency: 0.00010  dbSNP: rs570744198
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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 RCV001811733 SCV002049526 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001811733 SCV003271150 likely benign not provided 2024-10-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001811733 SCV003812913 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001811733 SCV004227635 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing BS2, BP4
Breakthrough Genomics, Breakthrough Genomics RCV001811733 SCV005217609 likely benign not provided criteria provided, single submitter not provided

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