ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1899+1G>A (rs1556138769)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516827 SCV000614446 pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing
Mendelics RCV000990540 SCV001141551 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-05-28 criteria provided, single submitter clinical testing

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