ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1174-3C>G

dbSNP: rs1446526598
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002255233 SCV002526672 uncertain significance Familial X-linked hypophosphatemic vitamin D refractory rickets 2022-05-04 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)_x000D_ Criteria applied: PS4_MOD, PM2_SUP, PP3, PP4

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