ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) (rs147859619)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000366699 SCV000267446 uncertain significance Familial X-linked hypophosphatemic vitamin D refractory rickets 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV000366699 SCV000482137 likely benign Familial X-linked hypophosphatemic vitamin D refractory rickets 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000435979 SCV000521205 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000435979 SCV000614441 benign not specified 2017-02-21 criteria provided, single submitter clinical testing

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