ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.165C>T (p.Gly55=) (rs387906273)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000002210 SCV000930496 uncertain significance Congenital disorder of glycosylation type 1D 2019-04-27 criteria provided, single submitter clinical testing
OMIM RCV000002210 SCV000022368 pathogenic Congenital disorder of glycosylation type 1D 2005-08-01 no assertion criteria provided literature only

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