ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3384G>A (p.Ala1128=) (rs149393587)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252381 SCV000305395 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000675339 SCV000534233 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Invitae RCV001079502 SCV000626727 benign Glycogen storage disease type III 2020-12-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675339 SCV000801005 likely benign not provided 2017-04-03 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000675339 SCV001977836 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000252381 SCV001980395 benign not specified no assertion criteria provided clinical testing

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