ClinVar Miner

Submissions for variant NM_001451.3(FOXF1):c.275G>C (p.Trp92Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002116 SCV005627696 likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment 2024-05-06 criteria provided, single submitter clinical testing

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