ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2883A>G (p.Arg961=) (rs113625417)

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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 RCV000253446 SCV000305387 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000675333 SCV000534232 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Invitae RCV001079501 SCV000626709 benign Glycogen storage disease type III 2020-12-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675333 SCV000800999 likely benign not provided 2017-04-04 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000675333 SCV001978406 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253446 SCV001980255 benign not specified no assertion criteria provided clinical testing

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