ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1005dup (p.Ser336fs)

dbSNP: rs2519779850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003992000 SCV004811888 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2024-01-09 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PP4

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