ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.288A>G (p.Glu96=)

gnomAD frequency: 0.00980  dbSNP: rs112836831
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969760 SCV001117291 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288265 SCV001475249 benign not specified 2024-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000969760 SCV001866059 benign not provided 2019-09-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18625346)
Fulgent Genetics, Fulgent Genetics RCV002503063 SCV002805421 likely benign Familial X-linked hypophosphatemic vitamin D refractory rickets 2021-07-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000969760 SCV005274502 benign not provided criteria provided, single submitter not provided

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