ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)

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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 Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004545896 SCV004231759 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2024-01-12 criteria provided, single submitter clinical testing

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