ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1700+2T>C

dbSNP: rs1556128253
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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 RCV000505466 SCV000599704 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2015-04-14 criteria provided, single submitter clinical testing
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi RCV001843308 SCV002073713 pathogenic Hypophosphatemic rickets 2022-02-07 criteria provided, single submitter clinical testing

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