ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.2161A>T (p.Lys721Ter)

gnomAD frequency: 0.00001  dbSNP: rs374359855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658919 SCV001874137 uncertain significance not provided 2021-08-13 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
Yale Center for Mendelian Genomics, Yale University RCV001849534 SCV002106789 uncertain significance Amenorrhea 2021-03-08 no assertion criteria provided literature only

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