ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu)

gnomAD frequency: 0.00016  dbSNP: rs747301309
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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 RCV000756480 SCV000884309 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000756480 SCV002541365 uncertain significance not provided 2021-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000756480 SCV004535974 benign not provided 2023-05-09 criteria provided, single submitter clinical testing

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