ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1474del (p.Leu492fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314522 SCV004013996 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2022-12-20 criteria provided, single submitter clinical testing PVS1, PM2

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