ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.798A>G (p.Lys266=)

gnomAD frequency: 0.00001  dbSNP: rs765667414
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575848 SCV001802923 uncertain significance not provided 2021-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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