ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466772 SCV002761369 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-08-01 criteria provided, single submitter clinical testing

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