ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.350-1G>A

dbSNP: rs2147019098
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002221709 SCV002498771 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets no assertion criteria provided clinical testing

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