ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)

dbSNP: rs546338962
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509522 SCV001716273 uncertain significance not provided 2020-01-12 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001509522 SCV002061582 uncertain significance not provided 2021-09-27 criteria provided, single submitter clinical testing PM2
Revvity Omics, Revvity RCV001509522 SCV003815454 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509522 SCV004396593 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509522 SCV004565326 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing

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