ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1652+1G>A (rs281865470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482618 SCV000568253 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22544363, 26293599, 25533962, 27535533, 28191890, 26306646)
OMIM RCV000024374 SCV000045667 pathogenic Koolen-de Vries syndrome 2012-04-29 no assertion criteria provided literature only
GeneReviews RCV000024374 SCV000055760 pathologic Koolen-de Vries syndrome 2012-11-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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