ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp)

gnomAD frequency: 0.00021  dbSNP: rs959344565
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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 RCV001002399 SCV001160320 uncertain significance not specified 2019-02-13 criteria provided, single submitter clinical testing
Invitae RCV002551694 SCV003269913 benign not provided 2022-04-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002551694 SCV003812975 uncertain significance not provided 2021-12-09 criteria provided, single submitter clinical testing

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