ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131925 SCV003812942 uncertain significance not provided 2022-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003131925 SCV004264309 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003131925 SCV005412568 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing PM2_moderate

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