ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys)

gnomAD frequency: 0.00007  dbSNP: rs546108970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810783 SCV002048325 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001810783 SCV003812994 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing

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