ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2071-1G>A (rs886041374)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000392446 SCV000329889 pathogenic not provided 2016-07-12 criteria provided, single submitter clinical testing The c.2071-1 G>A splice site variant in the PHEX gene has been previously reported in association with X-linked hypophosphatemic rickets (Yamazaki et al., 2002). This pathogenic variant destroys the canonical splice acceptor site in intron 20, and is expected to cause abnormal gene splicing. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Thereofre, we consider this variant to be pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000505481 SCV000599690 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-11-06 criteria provided, single submitter clinical testing

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