ClinVar Miner

Submissions for variant NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) (rs267607093)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA Laboratuvarlari GHTM RCV000000891 SCV000804203 pathogenic Congenital disorder of glycosylation type 1Q 2017-08-29 criteria provided, single submitter clinical testing Variant was found in 2 siblings. Both have same variant. Their mother and father are relatives.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000000891 SCV000267100 pathogenic Congenital disorder of glycosylation type 1Q 2016-04-11 criteria provided, single submitter research
OMIM RCV000000891 SCV000021041 pathogenic Congenital disorder of glycosylation type 1Q 2010-07-23 no assertion criteria provided literature only

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