ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.8369_8390dup (p.Ala2798fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004759928 SCV005372860 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation as the last 7 amino acids are replaced with 28 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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