ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134866 SCV003812971 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing
GeneDx RCV003134866 SCV004035762 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33897756)
Labcorp Genetics (formerly Invitae), Labcorp RCV003134866 SCV004251085 benign not provided 2023-10-11 criteria provided, single submitter clinical testing

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