ClinVar Miner

Submissions for variant NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln)

dbSNP: rs672601295
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Research Centre, St George's University of London RCV000119307 SCV000154132 probable-pathogenic Pyloric stenosis, infantile hypertrophic, 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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