ClinVar Miner

Submissions for variant NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)

gnomAD frequency: 0.00003  dbSNP: rs137929776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492835 SCV000583351 pathogenic not provided 2023-02-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000492835 SCV001245937 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing

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