ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) (rs141908793)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789588 SCV000928944 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143824 SCV000188718 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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