ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.864G>A (p.Ala288=)

gnomAD frequency: 0.00002  dbSNP: rs1477621509
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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 RCV002540162 SCV001042163 likely benign Axenfeld-Rieger syndrome type 3 2024-01-22 criteria provided, single submitter clinical testing

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