ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.*1743C>T

gnomAD frequency: 0.00006  dbSNP: rs781717691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354238 SCV000388537 uncertain significance Primary congenital glaucoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259400 SCV000388538 uncertain significance Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing

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