ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1001C>T (p.Ala334Val)

gnomAD frequency: 0.00021  dbSNP: rs574402639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765514 SCV001999063 uncertain significance not provided 2021-03-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001765514 SCV004246127 benign not provided 2025-01-06 criteria provided, single submitter clinical testing

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