ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.282G>A (p.Leu94=)

gnomAD frequency: 0.00003  dbSNP: rs762854169
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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 RCV001486180 SCV001690634 likely benign Congenital primary aphakia; Anterior segment dysgenesis 2023-12-28 criteria provided, single submitter clinical testing

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