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 ALG3-CDG 2019-04-27 criteria provided, single submitter clinical testing
OMIM RCV000002210 SCV000022368 pathogenic ALG3-CDG 2005-08-01 no assertion criteria provided literature only

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