ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2666+3A>G

dbSNP: rs2146324420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751951 SCV001986642 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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