ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1482+16A>C

gnomAD frequency: 0.00034  dbSNP: rs376298942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427359 SCV000529402 likely benign not specified 2017-12-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516202 SCV001724442 benign not provided 2023-10-10 criteria provided, single submitter clinical testing

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