ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)

dbSNP: rs1057519477
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272227 SCV000494258 pathogenic Anterior segment dysgenesis 3 2021-08-10 criteria provided, single submitter clinical testing

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