ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1383G>A (p.Thr461=)

gnomAD frequency: 0.00397  dbSNP: rs77710864
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908505 SCV001053273 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495488 SCV002796006 likely benign Familial X-linked hypophosphatemic vitamin D refractory rickets 2021-09-30 criteria provided, single submitter clinical testing

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