ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) (rs1028791709)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000785866 SCV000924452 likely pathogenic Congenital disorder of glycosylation type 1D 2019-01-01 criteria provided, single submitter research

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