ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.351C>T (p.Asp117=)

gnomAD frequency: 0.00006  dbSNP: rs1391853754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002167926 SCV002339569 likely benign Axenfeld-Rieger syndrome type 3 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498144 SCV002809405 likely benign Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 2021-09-22 criteria provided, single submitter clinical testing

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