ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.6315C>G (p.Leu2105=)

gnomAD frequency: 0.00010  dbSNP: rs564995953
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914904 SCV001060092 likely benign not provided 2024-02-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000914904 SCV002541350 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing

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