ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=)

gnomAD frequency: 0.00084  dbSNP: rs150214594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811819 SCV002047862 likely benign not provided 2021-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001811819 SCV002457289 benign not provided 2023-11-13 criteria provided, single submitter clinical testing

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