ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.570C>T (p.His190=)

gnomAD frequency: 0.00001  dbSNP: rs1199142990
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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 RCV002106011 SCV002437579 likely benign Axenfeld-Rieger syndrome type 3 2023-02-02 criteria provided, single submitter clinical testing

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