ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala)

dbSNP: rs1954548195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV001269464 SCV001449117 pathogenic Irido-corneo-trabecular dysgenesis 2020-11-26 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP3

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