ClinVar Miner

Submissions for variant NM_001142459.2(ASB10):c.810C>T (p.Thr270=)

gnomAD frequency: 0.00031  dbSNP: rs104886478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043656 SCV000071678 pathogenic Glaucoma 1, open angle, F 2012-03-15 no assertion criteria provided literature only
Casey Eye Institute Glaucoma Genetics Lab RCV000043656 SCV000118562 not provided Glaucoma 1, open angle, F no assertion provided not provided

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