ClinVar Miner

Submissions for variant NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu)

dbSNP: rs1969550671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001291932 SCV005415952 likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment criteria provided, single submitter clinical testing PM2_Supporting+PS2_Moderate+PS4_Supporting+PP4+PP3_Strong
Stankiewicz Research Laboratory, Baylor College of Medicine RCV001291932 SCV001480485 pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment 2021-02-18 no assertion criteria provided research

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