ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.5376del (p.Cys1793fs)

dbSNP: rs137854895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007996 SCV000028201 pathogenic Glaucoma 3, primary congenital, D 2009-10-15 no assertion criteria provided literature only
Elahi Laboratory, University of Tehran RCV000114816 SCV000148711 pathogenic Glaucoma 3A no assertion criteria provided not provided Converted during submission to Pathogenic.

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