ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.664CTC[1] (p.Leu223del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989984 SCV004806162 uncertain significance ALG3-congenital disorder of glycosylation 2024-03-25 criteria provided, single submitter clinical testing

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