ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val)

dbSNP: rs886044139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289741 SCV000343594 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000289741 SCV004025296 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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