ClinVar Miner

Submissions for variant NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter)

dbSNP: rs151344606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043657 SCV000071679 pathogenic Glaucoma 1, open angle, F 2012-03-15 no assertion criteria provided literature only
Casey Eye Institute Glaucoma Genetics Lab RCV000043657 SCV000118583 not provided Glaucoma 1, open angle, F no assertion provided not provided

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