ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)

gnomAD frequency: 0.00014  dbSNP: rs868678918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550505 SCV001770839 likely benign not provided 2020-04-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001550505 SCV002049670 uncertain significance not provided 2021-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001550505 SCV003513091 benign not provided 2022-08-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001550505 SCV003815458 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001550505 SCV005412566 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing BP4

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