ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1403-11dup

dbSNP: rs550609501
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253890 SCV000310997 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339236 SCV000365697 uncertain significance Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000253890 SCV000595004 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711807 SCV000842210 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV001516312 SCV001724580 benign Hyperinsulinism-hyperammonemia syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000711807 SCV001988740 benign not provided 2021-06-29 criteria provided, single submitter clinical testing

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