ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.9424T>C (p.Cys3142Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004590726 SCV005078377 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004759426 SCV005374501 uncertain significance Mitral valve prolapse, myxomatous 2 2024-09-22 criteria provided, single submitter clinical testing

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