ClinVar Miner

Submissions for variant NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter)

dbSNP: rs1393788111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331935 SCV001524102 pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment 2019-10-15 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in one patient as disease-causing [PMID: 27439648, 28469849]
Daryl Scott Lab, Baylor College of Medicine RCV001331935 SCV002515326 pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment 2022-02-01 criteria provided, single submitter clinical testing

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