ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.718C>T (p.Leu240=)

gnomAD frequency: 0.00063  dbSNP: rs754033600
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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 RCV001473226 SCV001677371 likely benign Axenfeld-Rieger syndrome type 3 2022-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705949 SCV005222682 likely benign not provided criteria provided, single submitter not provided

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