ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)

gnomAD frequency: 0.00210  dbSNP: rs144035770
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884095 SCV001027451 likely benign not provided 2024-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000884095 SCV001159215 likely benign not provided 2023-07-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000884095 SCV001715160 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884095 SCV005909976 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing PIEZO1: PP3, BS1
PreventionGenetics, part of Exact Sciences RCV003920602 SCV004734796 likely benign PIEZO1-related disorder 2022-02-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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