ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1575A>C (p.Glu525Asp) (rs548487697)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645330 SCV000767074 likely benign Dilated cardiomyopathy 1W 2017-10-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156752 SCV000206473 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Glu525Asp variant in VCL gene has not been previously reported in individual s with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, the clinical significance of the Glu525Asp var iant is uncertain.

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