ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys)

gnomAD frequency: 0.00031  dbSNP: rs182793773
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002045551 SCV002305066 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002045551 SCV003813015 uncertain significance not provided 2021-09-22 criteria provided, single submitter clinical testing

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