ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2226T>C (p.Ile742=)

gnomAD frequency: 0.05629  dbSNP: rs76488076
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242356 SCV000313900 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001683105 SCV001897665 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683105 SCV002392946 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683105 SCV005248916 benign not provided criteria provided, single submitter not provided

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