ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1189C>T (p.Leu397=)

gnomAD frequency: 0.00032  dbSNP: rs771039137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002060757 SCV002374808 likely benign Axenfeld-Rieger syndrome type 3 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597844 SCV005093296 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing FOXC1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV004597844 SCV005222683 likely benign not provided criteria provided, single submitter not provided

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