ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter)

dbSNP: rs121907915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003626 SCV000023789 pathogenic Cataracts, congenital, with late-onset corneal dystrophy 1994-08-01 no assertion criteria provided literature only
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000984456 SCV001055815 pathogenic Aniridia 1 2019-08-15 no assertion criteria provided clinical testing

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