ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1650T>C (p.Cys550=)

gnomAD frequency: 0.00077  dbSNP: rs147749489
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877062 SCV001019733 benign Axenfeld-Rieger syndrome type 3 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424421 SCV004158211 benign not provided 2022-03-01 criteria provided, single submitter clinical testing FOXC1: BS1, BS2

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