ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del) (rs1602412679)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990543 SCV001141554 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-05-28 criteria provided, single submitter clinical testing

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