ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) (rs137854856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000030740 SCV000053401 pathogenic Weill-Marchesani syndrome 3 2012-08-01 no assertion criteria provided literature only
Elahi Laboratory, University of Tehran RCV000114810 SCV000148705 pathogenic Weill-Marchesani syndrome 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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