ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.3527-14T>C (rs137854886)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000338981 SCV000388611 uncertain significance Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406146 SCV000388612 uncertain significance Primary congenital glaucoma 2016-06-14 criteria provided, single submitter clinical testing
Elahi Laboratory, University of Tehran RCV000119305 SCV000154130 unknown significance Pseudoexfoliation glaucoma no assertion criteria provided not provided Converted during submission to Uncertain significance.

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