ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=)

gnomAD frequency: 0.00654  dbSNP: rs34388120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000957488 SCV001104294 benign not provided 2023-07-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000957488 SCV001157168 likely benign not provided 2023-09-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000957488 SCV005250193 benign not provided criteria provided, single submitter not provided

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