ClinVar Miner

Submissions for variant NM_001330504.1(ALG1):c.507G>C (p.Leu169=) (rs12921879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081988 SCV000113923 benign not specified 2016-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000081988 SCV000517515 benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000524867 SCV000649508 benign Congenital disorder of glycosylation type 1K 2017-06-22 criteria provided, single submitter clinical testing

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