ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.147C>T (p.His49=)

gnomAD frequency: 0.00002  dbSNP: rs1400944385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594437 SCV000707537 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531080 SCV002936436 likely benign Axenfeld-Rieger syndrome type 3 2023-08-17 criteria provided, single submitter clinical testing

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