ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=)

gnomAD frequency: 0.00549  dbSNP: rs138064042
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001585906 SCV001157202 benign not provided 2023-08-25 criteria provided, single submitter clinical testing
GeneDx RCV001585906 SCV001818158 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001585906 SCV003255281 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001585906 SCV005219570 likely benign not provided criteria provided, single submitter not provided

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