ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.436+6T>C

dbSNP: rs1556020485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000505454 SCV000599635 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2015-04-17 criteria provided, single submitter clinical testing
OMIM RCV000505454 SCV000031802 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2008-04-01 no assertion criteria provided literature only

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