ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) (rs568371168)

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Total submissions: 1
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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 RCV000662048 SCV000784384 uncertain significance Congenital disorder of glycosylation type 1D 2018-03-05 criteria provided, single submitter clinical testing

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