ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.[1173+2T>A];[1173+2T>A] (rs786205134)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000170339 SCV000195551 pathogenic Gillessen-Kaesbach-Nishimura dysplasia 2014-11-24 no assertion criteria provided clinical testing We observed a novel phenotype, characterized by skeletal dysplasia and visceral malformations, and propose the name Gilessen-Kaesbach-Nishimura dysplasia for this severe form of congenital disorder glycosylation. Gilessen-Kaesbach-Nishimura dysplasia phenotype is at the most severe end of the CDG1L spectrum (lethal).
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000211586 SCV000845291 pathogenic Gillessen-Kaesbach-Nishimura syndrome 2018-08-07 criteria provided, single submitter clinical testing
OMIM RCV000211586 SCV000268527 pathogenic Gillessen-Kaesbach-Nishimura syndrome 2015-05-13 no assertion criteria provided literature only

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