ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2830_2837+13del (rs1064796289)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483106 SCV000572856 pathogenic not provided 2019-11-21 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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