ClinVar Miner

Submissions for variant NM_020638.3(FGF23):c.162G>C (p.Gln54His)

dbSNP: rs193922701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029797 SCV000052452 likely pathogenic Autosomal dominant hypophosphatemic rickets 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003456360 SCV004184209 likely pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing FGF23: PM2, PM3, PM5, PS4:Supporting

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