ClinVar Miner

Submissions for variant NM_004425.4(ECM1):c.1305-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV004818476 SCV005061861 pathogenic Lipid proteinosis 2015-08-21 no assertion criteria provided clinical testing

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