ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) (rs137854857)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954982 SCV001101652 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Elahi Laboratory, University of Tehran RCV000114807 SCV000148702 non-pathogenic Ectopia lentis, isolated, autosomal dominant no assertion criteria provided not provided Converted during submission to Benign.

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