ClinVar Miner

Submissions for variant NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000710032 SCV000840404 uncertain significance Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-09-13 criteria provided, single submitter clinical testing

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