ClinVar Miner

Submissions for variant NM_001451.3(FOXF1):c.286G>T (p.Val96Leu)

dbSNP: rs1969550532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV001251452 SCV001427079 likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment 2018-11-27 no assertion criteria provided clinical testing

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