ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)

dbSNP: rs397514640
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789036 SCV000928376 pathogenic Aniridia 1 2018-07-04 criteria provided, single submitter clinical testing PS4, PM1, PM2, PP3, PP4
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281650 SCV001468991 likely pathogenic not provided criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV001249825 SCV001055713 likely pathogenic Foveal hypoplasia 1 2019-08-15 no assertion criteria provided clinical testing

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