ClinVar Miner

Submissions for variant NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)

dbSNP: rs1057518868
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415110 SCV000492785 likely pathogenic Fetal megacystis; Ventricular septal defect; Atresia of urethra 2015-03-10 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198324 SCV001369213 likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.

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