ClinVar Miner

Submissions for variant NM_001330504.1(ALG1):c.467G>A (p.Ser156Asn) (rs17849848)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152769 SCV000202157 benign not specified 2018-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000152769 SCV000517779 benign not specified 2015-12-14 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625087 SCV000743747 likely benign Congenital disorder of glycosylation type 1K 2015-01-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625087 SCV000745151 benign Congenital disorder of glycosylation type 1K 2017-05-31 criteria provided, single submitter clinical testing

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