ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2255A>G (p.Tyr752Cys)

gnomAD frequency: 0.00005  dbSNP: rs1015803761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573691 SCV002001311 uncertain significance not provided 2021-01-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573691 SCV001799933 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001573691 SCV001963249 uncertain significance not provided no assertion criteria provided clinical testing

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