ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=)

gnomAD frequency: 0.02381  dbSNP: rs142099589
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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 RCV001548717 SCV001156787 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001548717 SCV001768677 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001548717 SCV002405411 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001548717 SCV005219583 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001548717 SCV001797492 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699499 SCV001924905 benign not specified no assertion criteria provided clinical testing

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