ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.424G>T (p.Val142Phe)

gnomAD frequency: 0.00001  dbSNP: rs1193030438
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763496 SCV001990954 uncertain significance not provided 2019-04-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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