ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.930C>T (p.Gly310=)

gnomAD frequency: 0.00001  dbSNP: rs963646314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002198022 SCV002353131 likely benign Congenital primary aphakia; Anterior segment dysgenesis 2022-10-23 criteria provided, single submitter clinical testing

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