ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.653T>C (p.Val218Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004784345 SCV005396175 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function

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