ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) (rs1556023495)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000505459 SCV000599692 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-11-06 criteria provided, single submitter clinical testing

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