ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) (rs1556138742)

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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 RCV000505402 SCV000599639 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-08-31 criteria provided, single submitter clinical testing

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