ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4668G>C (p.Pro1556=)

gnomAD frequency: 0.00002  dbSNP: rs137854866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003114257 SCV003789327 likely benign not provided 2022-10-07 criteria provided, single submitter clinical testing
Elahi Laboratory, University of Tehran RCV000114814 SCV000148709 unknown Primary open angle glaucoma no assertion criteria provided not provided Converted during submission to Uncertain significance.

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