ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1452C>T (p.His484=)

gnomAD frequency: 0.00019  dbSNP: rs749512415
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815949 SCV002062649 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077272 SCV002391121 likely benign Axenfeld-Rieger syndrome type 3 2023-07-10 criteria provided, single submitter clinical testing

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