ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1245G>T (p.Ala415=)

gnomAD frequency: 0.00002  dbSNP: rs759491792
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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 RCV002096208 SCV002395596 likely benign Axenfeld-Rieger syndrome type 3 2023-06-07 criteria provided, single submitter clinical testing

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