ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2991+12A>G

gnomAD frequency: 0.05710  dbSNP: rs112680298
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573035 SCV001474627 benign not provided 2024-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001573035 SCV001863803 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001573035 SCV002371230 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573035 SCV005250257 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573035 SCV001798319 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700731 SCV001917730 benign not specified no assertion criteria provided clinical testing

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