ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.1025dup (p.Ser343fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003319896 SCV004023979 likely pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein elongation as the last 49 amino acids are replaced with 56 different amino acids; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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