ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.786C>T (p.Ser262=)

gnomAD frequency: 0.00002  dbSNP: rs1284573981
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001476017 SCV001680220 likely benign Axenfeld-Rieger syndrome type 3 2018-09-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884812 SCV004702814 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FOXC1: BP4, BP7

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